Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000150579 | SCV000197840 | likely benign | not specified | 2014-11-17 | criteria provided, single submitter | clinical testing | p.Thr2218Thr in exon 24 of DSP: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. |
Invitae | RCV002514894 | SCV003248795 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2022-09-10 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV003531971 | SCV004363477 | likely benign | Cardiomyopathy | 2022-03-09 | criteria provided, single submitter | clinical testing |