ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.2806G>T (p.Ala936Ser)

dbSNP: rs141704264
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037462 SCV000061120 benign not specified 2012-02-23 criteria provided, single submitter clinical testing Ala936Ser in exon 22 of MYH6: This variant has been identified in 2.6% (99/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequ encing Project (http://evs.gs.washington.edu/EVS; dbSNP rs141704264).
Invitae RCV000227773 SCV000287400 benign Hypertrophic cardiomyopathy 14 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000037462 SCV000515342 benign not specified 2016-11-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770450 SCV000901893 likely benign Cardiomyopathy 2016-10-07 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001723616 SCV001471773 benign not provided 2023-09-21 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000037462 SCV001918743 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000037462 SCV001931922 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001723616 SCV001951866 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000037462 SCV001967513 benign not specified no assertion criteria provided clinical testing

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