ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1282T>C (p.Leu428=)

gnomAD frequency: 0.00001  dbSNP: rs758253767
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231920 SCV000284207 likely benign Hypertrophic cardiomyopathy 2023-08-22 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001171145 SCV001333829 benign Cardiomyopathy 2018-03-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001171145 SCV001350895 likely benign Cardiomyopathy 2019-07-15 criteria provided, single submitter clinical testing
GeneDx RCV001534222 SCV001751127 likely benign not provided 2020-12-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV003298289 SCV003989426 likely benign Cardiovascular phenotype 2023-05-22 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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