ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1692C>T (p.Thr564=)

gnomAD frequency: 0.00003  dbSNP: rs781958880
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001399655 SCV001601445 likely benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2021-07-20 criteria provided, single submitter clinical testing
GeneDx RCV000869155 SCV001826235 likely benign not provided 2019-11-21 criteria provided, single submitter clinical testing

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