ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2603-11C>T

gnomAD frequency: 0.00004  dbSNP: rs11570105
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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 RCV000154754 SCV000204434 likely benign not specified 2014-11-18 criteria provided, single submitter clinical testing c.2603-11C>T in intron 25 of MYBPC3: This variant is not expected to have clinic al significance because a C>T change at this position does not diverge from the splice consensus sequence and is therefore unlikely to impact splicing.
GeneDx RCV001704121 SCV000513758 likely benign not provided 2019-04-03 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001184479 SCV001350452 likely benign Cardiomyopathy 2019-03-08 criteria provided, single submitter clinical testing
Invitae RCV002516108 SCV003260028 likely benign Hypertrophic cardiomyopathy 2023-03-26 criteria provided, single submitter clinical testing

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