ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.2055C>T (p.Ser685=)

dbSNP: rs1913708075
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001201754 SCV001372844 likely benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2023-10-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001201754 SCV002775427 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2021-08-18 criteria provided, single submitter clinical testing

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