ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.1288+19G>A

gnomAD frequency: 0.00001  dbSNP: rs1470073477
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002853307 SCV003226550 likely benign Hypertrophic cardiomyopathy 2023-08-03 criteria provided, single submitter clinical testing

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