ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.1251T>G (p.Thr417=)

dbSNP: rs1336473590
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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 RCV000929831 SCV001075467 likely benign Hypertrophic cardiomyopathy 2024-02-24 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV005405412 SCV006069372 likely benign not specified 2025-04-09 criteria provided, single submitter clinical testing

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