Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000236744 | SCV000294301 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2023-11-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000248290 | SCV000320207 | likely benign | Cardiovascular phenotype | 2015-09-10 | 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. |
Gene |
RCV001722276 | SCV000527579 | likely benign | not provided | 2020-03-05 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001178359 | SCV001342777 | likely benign | Cardiomyopathy | 2018-11-22 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003479078 | SCV004223741 | likely benign | not specified | 2023-11-13 | criteria provided, single submitter | clinical testing |