ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.3609C>G (p.Ala1203=)

dbSNP: rs149369904
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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 RCV000037480 SCV000061138 benign not specified 2012-04-03 criteria provided, single submitter clinical testing
Invitae RCV000225959 SCV000287411 benign Hypertrophic cardiomyopathy 14 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000253986 SCV000318170 benign Cardiovascular phenotype 2015-07-08 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV000037480 SCV000515391 benign not specified 2016-11-21 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 RCV000769415 SCV000900808 benign Cardiomyopathy 2017-08-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000037480 SCV001159388 benign not specified 2019-03-13 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529206 SCV001742279 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000037480 SCV001924682 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001529206 SCV001960086 likely benign not provided no assertion criteria provided clinical testing

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