ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.3302T>C (p.Val1101Ala)

gnomAD frequency: 0.44987  dbSNP: rs365990
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000037473 SCV000051571 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037473 SCV000061131 benign not specified 2011-09-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000037473 SCV000308970 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000244685 SCV000317578 benign Cardiovascular phenotype 2015-06-16 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.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000037473 SCV000740599 benign not specified 2016-05-13 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001668160 SCV001158911 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
Invitae RCV001513926 SCV001721632 benign Hypertrophic cardiomyopathy 14 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001668160 SCV001883292 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 20062063, 20639392)
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000037473 SCV001741947 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000037473 SCV001922059 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000037473 SCV001957770 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000037473 SCV001975682 benign not specified no assertion criteria provided clinical testing

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