ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.697G>T (p.Ala233Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV005403992 SCV006069644 uncertain significance Cardiovascular phenotype 2025-04-09 criteria provided, single submitter clinical testing

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