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.
2. 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]
3. ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burden. Sharo AG; Zou Y; Adhikari AN; Brenner SE Genome Med; 2023 Jul; 15(1):51. PubMed ID: 37443081 [TBL] [Abstract][Full Text] [Related]
4. Variability in assigning pathogenicity to incidental findings: insights from LDLR sequence linked to the electronic health record in 1013 individuals. Safarova MS; Klee EW; Baudhuin LM; Winkler EM; Kluge ML; Bielinski SJ; Olson JE; Kullo IJ Eur J Hum Genet; 2017 Apr; 25(4):410-415. PubMed ID: 28145427 [TBL] [Abstract][Full Text] [Related]
5. ClinVar: public archive of interpretations of clinically relevant variants. Landrum MJ; Lee JM; Benson M; Brown G; Chao C; Chitipiralla S; Gu B; Hart J; Hoffman D; Hoover J; Jang W; Katz K; Ovetsky M; Riley G; Sethi A; Tully R; Villamarin-Salomon R; Rubinstein W; Maglott DR Nucleic Acids Res; 2016 Jan; 44(D1):D862-8. PubMed ID: 26582918 [TBL] [Abstract][Full Text] [Related]
6. Variability in gene-based knowledge impacts variant classification: an analysis of FBN1 missense variants in ClinVar. Baudhuin LM; Kluge ML; Kotzer KE; Lagerstedt SA Eur J Hum Genet; 2019 Oct; 27(10):1550-1560. PubMed ID: 31227806 [TBL] [Abstract][Full Text] [Related]
7. 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]
8. ClinVar at five years: Delivering on the promise. Landrum MJ; Kattman BL Hum Mutat; 2018 Nov; 39(11):1623-1630. PubMed ID: 30311387 [TBL] [Abstract][Full Text] [Related]
9. 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]
11. ClinVar: public archive of relationships among sequence variation and human phenotype. Landrum MJ; Lee JM; Riley GR; Jang W; Rubinstein WS; Church DM; Maglott DR Nucleic Acids Res; 2014 Jan; 42(Database issue):D980-5. PubMed ID: 24234437 [TBL] [Abstract][Full Text] [Related]
12. Somatic cancer variant curation and harmonization through consensus minimum variant level data. Ritter DI; Roychowdhury S; Roy A; Rao S; Landrum MJ; Sonkin D; Shekar M; Davis CF; Hart RK; Micheel C; Weaver M; Van Allen EM; Parsons DW; McLeod HL; Watson MS; Plon SE; Kulkarni S; Madhavan S; Genome Med; 2016 Nov; 8(1):117. PubMed ID: 27814769 [TBL] [Abstract][Full Text] [Related]
13. Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy. SoRelle JA; Pascual JM; Gotway G; Park JY JAMA Netw Open; 2020 Apr; 3(4):e203812. PubMed ID: 32347949 [TBL] [Abstract][Full Text] [Related]
14. Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades. Xiang J; Yang J; Chen L; Chen Q; Yang H; Sun C; Zhou Q; Peng Z Sci Rep; 2020 Jan; 10(1):331. PubMed ID: 31942019 [TBL] [Abstract][Full Text] [Related]
15. Using ClinVar as a Resource to Support Variant Interpretation. Harrison SM; Riggs ER; Maglott DR; Lee JM; Azzariti DR; Niehaus A; Ramos EM; Martin CL; Landrum MJ; Rehm HL Curr Protoc Hum Genet; 2016 Apr; 89():8.16.1-8.16.23. PubMed ID: 27037489 [TBL] [Abstract][Full Text] [Related]
17. The value of genomic variant ClinVar submissions from clinical providers: Beyond the addition of novel variants. Wain KE; Palen E; Savatt JM; Shuman D; Finucane B; Seeley A; Challman TD; Myers SM; Martin CL Hum Mutat; 2018 Nov; 39(11):1660-1667. PubMed ID: 30311381 [TBL] [Abstract][Full Text] [Related]
18. 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]
19. Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation. Kobayashi Y; Yang S; Nykamp K; Garcia J; Lincoln SE; Topper SE Genome Med; 2017 Feb; 9(1):13. PubMed ID: 28166811 [TBL] [Abstract][Full Text] [Related]
20. Assessment of an automated approach for variant interpretation in screening for monogenic disorders: A single-center study. Gall BJ; Smart TB; Munch R; Kolluri S; Tadepally H; Lim KPH; Demko ZP; Benn P; Souter V; Sanapareddy N; Keen-Kim D Mol Genet Genomic Med; 2022 Dec; 10(12):e2085. PubMed ID: 36333997 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]