ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1806C>T (p.Arg602=) (rs781934535)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000389767 SCV000402716 uncertain significance Naxos disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000288317 SCV000402717 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000557676 SCV000645729 likely benign Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 2017-05-22 criteria provided, single submitter clinical testing

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