ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.1659G>A (p.Ala553=)

gnomAD frequency: 0.00001  dbSNP: rs749392070
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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 RCV001486586 SCV001691046 likely benign Hypertrophic cardiomyopathy 2023-10-22 criteria provided, single submitter clinical testing

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