Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000038038 | SCV000061704 | likely benign | not specified | 2012-11-30 | criteria provided, single submitter | clinical testing | Thr1415Thr in exon 23 of DSP: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. Thr1415Thr in exon 23 of DSP (allele frequenc y = n/a) |
Invitae | RCV002054686 | SCV002398230 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2022-08-13 | criteria provided, single submitter | clinical testing |