ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.393G>A (p.Leu131=)

gnomAD frequency: 0.06973  dbSNP: rs17277970
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Total submissions: 8
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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 RCV000037488 SCV000061146 benign not specified 2011-09-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000037488 SCV000308972 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000246403 SCV000317859 benign Cardiovascular phenotype 2015-06-29 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 RCV000037488 SCV000513786 benign not specified 2016-10-03 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.
Invitae RCV001511450 SCV001718694 benign Hypertrophic cardiomyopathy 14 2024-01-31 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000037488 SCV001917524 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000037488 SCV001952212 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000037488 SCV001968271 benign not specified no assertion criteria provided clinical testing

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