ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.312C>G (p.Thr104=)

dbSNP: rs2143695686
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005213559 SCV005858611 likely benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2024-06-19 criteria provided, single submitter clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001723296 SCV001951581 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001723296 SCV001973003 likely benign not provided no assertion criteria provided clinical testing

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