ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1624+13G>A

dbSNP: rs397515913
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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 RCV000035418 SCV000059066 likely benign not specified 2012-05-17 criteria provided, single submitter clinical testing c.1624+13G>A in intron 17 of MYBPC3: This variant is not expected to have clinic al significance because it does not alter an amino acid residue and is not locat ed within the splice consensus sequence. It has been identified in 0.2% (16/560 4) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http:// exac.broadinstitute.org; dbSNP rs397515913).
GeneDx RCV000035418 SCV000530524 likely benign not specified 2018-01-16 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 RCV002054560 SCV002479633 benign Hypertrophic cardiomyopathy 2024-01-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490474 SCV002803772 likely benign Hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10 2021-09-27 criteria provided, single submitter clinical testing

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