ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1803G>A (p.Leu601=)

gnomAD frequency: 0.00001  dbSNP: rs397515927
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Total submissions: 3
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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 RCV000035436 SCV000059084 likely benign not specified 2010-02-26 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001185755 SCV001352032 likely benign Cardiomyopathy 2019-09-30 criteria provided, single submitter clinical testing
Invitae RCV002514150 SCV003494235 likely benign Hypertrophic cardiomyopathy 2023-11-01 criteria provided, single submitter clinical testing

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