ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.707+20G>A

gnomAD frequency: 0.00010  dbSNP: rs782523305
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002106575 SCV002434714 likely benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2024-01-20 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003738148 SCV004564408 likely benign not provided 2023-03-02 criteria provided, single submitter clinical testing

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