ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3754T>C (p.Leu1252=)

dbSNP: rs397516193
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Total submissions: 4
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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 RCV000035865 SCV000059516 likely benign not specified 2009-02-23 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001183472 SCV001349212 likely benign Cardiomyopathy 2019-05-16 criteria provided, single submitter clinical testing
Invitae RCV001473786 SCV001677946 likely benign Hypertrophic cardiomyopathy 2023-08-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345276 SCV002622187 likely benign Cardiovascular phenotype 2020-11-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.

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