Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001718913 | SCV000721137 | likely benign | not provided | 2019-08-28 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001182034 | SCV001347356 | likely benign | Cardiomyopathy | 2019-04-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001461231 | SCV001665121 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002506466 | SCV002801882 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Lethal acantholytic epidermolysis bullosa; Woolly hair-skin fragility syndrome; Keratosis palmoplantaris striata 2; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis | 2021-07-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003160094 | SCV003855678 | likely benign | Cardiovascular phenotype | 2022-12-18 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |