ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1518C>T (p.Asp506=)

gnomAD frequency: 0.00004  dbSNP: rs397515908
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Total submissions: 5
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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 RCV000035408 SCV000059056 likely benign not specified 2010-12-28 criteria provided, single submitter clinical testing This variant is not expected to have clinical significance because it does not a lter an amino acid residue and is not located near a splice junction.
Color Diagnostics, LLC DBA Color Health RCV001188362 SCV001355411 likely benign Cardiomyopathy 2019-01-06 criteria provided, single submitter clinical testing
Invitae RCV002054559 SCV002341371 likely benign Hypertrophic cardiomyopathy 2023-12-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390142 SCV002708590 likely benign Cardiovascular phenotype 2022-09-16 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000035408 SCV003934386 likely benign not specified 2023-05-22 criteria provided, single submitter clinical testing

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