Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156428 | SCV000206146 | uncertain significance | not specified | 2014-03-14 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The 170+11G>T varia nt in DSP has not been previously reported in individuals with cardiomyopathy an d data from large population studies is insufficient to assess the frequency of this variant. Additional information is needed to fully assess the clinical sign ificance of the 170+11G>T variant. |
Invitae | RCV003764973 | SCV004592652 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2023-12-30 | criteria provided, single submitter | clinical testing |