ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.51G>A (p.Gln17=)

gnomAD frequency: 0.00002  dbSNP: rs782236888
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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 RCV002214892 SCV002366874 likely benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2022-08-03 criteria provided, single submitter clinical testing

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