ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3297G>A (p.Gly1099=)

gnomAD frequency: 0.00004  dbSNP: rs371301665
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000874760 SCV001016984 likely benign Hypertrophic cardiomyopathy 2023-09-17 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001183778 SCV001349603 likely benign Cardiomyopathy 2019-01-20 criteria provided, single submitter clinical testing
GeneDx RCV001638011 SCV001852030 likely benign not provided 2020-06-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003920436 SCV004735254 likely benign MYBPC3-related condition 2020-10-23 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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