ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.147C>T (p.Ile49=)

gnomAD frequency: 0.00002  dbSNP: rs774273586
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000606172 SCV000732333 likely benign not specified 2017-04-05 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 RCV000873958 SCV001016061 likely benign Hypertrophic cardiomyopathy 2023-07-08 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001190493 SCV001357994 likely benign Cardiomyopathy 2018-11-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003892390 SCV004713591 likely benign MYBPC3-related condition 2020-08-31 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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