ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2838A>G (p.Ala946=)

gnomAD frequency: 0.00009  dbSNP: rs376858768
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000444335 SCV000524111 likely benign not specified 2018-03-05 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 RCV000471698 SCV000558141 likely benign Hypertrophic cardiomyopathy 2023-10-14 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001188686 SCV001355812 likely benign Cardiomyopathy 2019-01-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436285 SCV002746508 likely benign Cardiovascular phenotype 2020-04-03 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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