Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular 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 |