ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1320C>T (p.Gly440=)

gnomAD frequency: 0.00002  dbSNP: rs368192024
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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 RCV000035389 SCV000059037 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.
Invitae RCV000460213 SCV000546427 likely benign Hypertrophic cardiomyopathy 2024-01-19 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001180859 SCV001345898 likely benign Cardiomyopathy 2019-08-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381290 SCV002690418 likely benign Cardiovascular phenotype 2019-04-19 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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