ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2149-80G>A

gnomAD frequency: 0.00002  dbSNP: rs1041197781
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001362137 SCV001558140 likely benign Hypertrophic cardiomyopathy 2024-02-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493848 SCV002796973 uncertain significance Hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10 2021-07-07 criteria provided, single submitter clinical testing

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