ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1326C>T (p.Ile442=)

dbSNP: rs2143562604
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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 RCV002160578 SCV002469642 likely benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2021-04-15 criteria provided, single submitter clinical testing

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