These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
176 related articles for article (PubMed ID: 29240077)
1. Clinically impactful differences in variant interpretation between clinicians and testing laboratories: a single-center experience. Bland A; Harrington EA; Dunn K; Pariani M; Platt JCK; Grove ME; Caleshu C Genet Med; 2018 Mar; 20(3):369-373. PubMed ID: 29240077 [TBL] [Abstract][Full Text] [Related]
2. Reinterpretation of sequence variants: one diagnostic laboratory's experience, and the need for standard guidelines. Chisholm C; Daoud H; Ghani M; Mettler G; McGowan-Jordan J; Sinclair-Bourque L; Smith A; Jarinova O Genet Med; 2018 Mar; 20(3):365-368. PubMed ID: 29240080 [TBL] [Abstract][Full Text] [Related]
3. Clinical Variant Classification: A Comparison of Public Databases and a Commercial Testing Laboratory. Gradishar W; Johnson K; Brown K; Mundt E; Manley S Oncologist; 2017 Jul; 22(7):797-803. PubMed ID: 28408614 [TBL] [Abstract][Full Text] [Related]
4. Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach. Harrison SM; Dolinksy JS; Chen W; Collins CD; Das S; Deignan JL; Garber KB; Garcia J; Jarinova O; Knight Johnson AE; Koskenvuo JW; Lee H; Mao R; Mar-Heyming R; McFaddin AS; Moyer K; Nagan N; Rentas S; Santani AB; Seppälä EH; Shirts BH; Tidwell T; Topper S; Vincent LM; Vinette K; Rehm HL; Hum Mutat; 2018 Nov; 39(11):1641-1649. PubMed ID: 30311378 [TBL] [Abstract][Full Text] [Related]
5. Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing. Balmaña J; Digiovanni L; Gaddam P; Walsh MF; Joseph V; Stadler ZK; Nathanson KL; Garber JE; Couch FJ; Offit K; Robson ME; Domchek SM J Clin Oncol; 2016 Dec; 34(34):4071-4078. PubMed ID: 27621404 [TBL] [Abstract][Full Text] [Related]
6. Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository. Mighton C; Smith AC; Mayers J; Tomaszewski R; Taylor S; Hume S; Agatep R; Spriggs E; Feilotter HE; Semenuk L; Wong H; Lazo de la Vega L; Marshall CR; Axford MM; Silver T; Charames GS; Di Gioacchino V; Watkins N; Foulkes WD; Clavier M; Hamel N; Chong G; Lamont RE; Parboosingh J; Karsan A; Bosdet I; Young SS; Tucker T; Akbari MR; Speevak MD; Vaags AK; Lebo MS; Lerner-Ellis J; J Med Genet; 2022 Jun; 59(6):571-578. PubMed ID: 33875564 [TBL] [Abstract][Full Text] [Related]
7. Care in Specialized Centers and Data Sharing Increase Agreement in Hypertrophic Cardiomyopathy Genetic Test Interpretation. Furqan A; Arscott P; Girolami F; Cirino AL; Michels M; Day SM; Olivotto I; Ho CY; Ashley E; Green EM; Caleshu C; Circ Cardiovasc Genet; 2017 Oct; 10(5):. PubMed ID: 28986452 [TBL] [Abstract][Full Text] [Related]
8. Sources of discordance among germ-line variant classifications in ClinVar. Yang S; Lincoln SE; Kobayashi Y; Nykamp K; Nussbaum RL; Topper S Genet Med; 2017 Oct; 19(10):1118-1126. PubMed ID: 28569743 [TBL] [Abstract][Full Text] [Related]
9. Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies. Amendola LM; Muenzen K; Biesecker LG; Bowling KM; Cooper GM; Dorschner MO; Driscoll C; Foreman AKM; Golden-Grant K; Greally JM; Hindorff L; Kanavy D; Jobanputra V; Johnston JJ; Kenny EE; McNulty S; Murali P; Ou J; Powell BC; Rehm HL; Rolf B; Roman TS; Van Ziffle J; Guha S; Abhyankar A; Crosslin D; Venner E; Yuan B; Zouk H; ; Jarvik GP Am J Hum Genet; 2020 Nov; 107(5):932-941. PubMed ID: 33108757 [TBL] [Abstract][Full Text] [Related]
10. Clinical implications of conflicting variant interpretations in the cancer genetics clinic. Zukin E; Culver JO; Liu Y; Yang Y; Ricker CN; Hodan R; Sturgeon D; Kingham K; Chun NM; Rowe-Teeter C; Singh K; Zell JA; Ladabaum U; McDonnell KJ; Ford JM; Parmigiani G; Braun D; Kurian AW; Gruber SB; Idos GE Genet Med; 2023 Jul; 25(7):100837. PubMed ID: 37057674 [TBL] [Abstract][Full Text] [Related]
11. Variant classification changes over time in BRCA1 and BRCA2. Mighton C; Charames GS; Wang M; Zakoor KR; Wong A; Shickh S; Watkins N; Lebo MS; Bombard Y; Lerner-Ellis J Genet Med; 2019 Oct; 21(10):2248-2254. PubMed ID: 30971832 [TBL] [Abstract][Full Text] [Related]
13. Observed frequency and challenges of variant reclassification in a hereditary cancer clinic. Macklin S; Durand N; Atwal P; Hines S Genet Med; 2018 Mar; 20(3):346-350. PubMed ID: 29215655 [TBL] [Abstract][Full Text] [Related]
14. Legacy Genetic Testing Results for Cancer Susceptibility: How Common are Conflicting Classifications in a Large Variant Dataset from Multiple Practices? Yin K; Liu Y; Lamichhane B; Sandbach JF; Patel G; Compagnoni G; Kanak RH; Rosen B; Ondrula DP; Smith L; Brown E; Gold L; Whitworth P; App C; Euhus D; Semine A; Dwight Lyons S; Lazarte MAC; Parmigiani G; Braun D; Hughes KS Ann Surg Oncol; 2020 Jul; 27(7):2212-2220. PubMed ID: 32342295 [TBL] [Abstract][Full Text] [Related]
15. Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. Amendola LM; Jarvik GP; Leo MC; McLaughlin HM; Akkari Y; Amaral MD; Berg JS; Biswas S; Bowling KM; Conlin LK; Cooper GM; Dorschner MO; Dulik MC; Ghazani AA; Ghosh R; Green RC; Hart R; Horton C; Johnston JJ; Lebo MS; Milosavljevic A; Ou J; Pak CM; Patel RY; Punj S; Richards CS; Salama J; Strande NT; Yang Y; Plon SE; Biesecker LG; Rehm HL Am J Hum Genet; 2016 Jun; 98(6):1067-1076. PubMed ID: 27181684 [TBL] [Abstract][Full Text] [Related]