ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.2086+14G>A

gnomAD frequency: 0.00004  dbSNP: rs727504485
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155613 SCV000205321 likely benign not specified 2013-04-05 criteria provided, single submitter clinical testing 2086+14G>A in intron 13 of JUP: This variant is not expected to have clinical si gnificance because it is not located within the splice consensus sequence. 2086 +14G>A in intron 13 of JUP (allele frequency = n/a)
Invitae RCV002056093 SCV002429723 likely benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2023-12-19 criteria provided, single submitter clinical testing

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