ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1563C>T (p.Asp521=)

gnomAD frequency: 0.00002  dbSNP: rs367915627
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001311763 SCV000722012 likely benign not provided 2019-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619868 SCV000740151 likely benign Cardiovascular phenotype 2017-05-10 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.
Color Diagnostics, LLC DBA Color Health RCV001181385 SCV001346522 likely benign Cardiomyopathy 2019-11-24 criteria provided, single submitter clinical testing
Invitae RCV001498339 SCV001703089 likely benign Hypertrophic cardiomyopathy 2023-11-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491260 SCV002801704 likely benign Hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10 2021-11-11 criteria provided, single submitter clinical testing

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