Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000243942 | SCV000320266 | likely benign | Cardiovascular phenotype | 2015-10-06 | 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 |
RCV001705397 | SCV000529928 | likely benign | not provided | 2020-11-04 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001180366 | SCV001345286 | likely benign | Cardiomyopathy | 2018-11-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001464850 | SCV001668825 | likely benign | Arrhythmogenic right ventricular dysplasia 11 | 2024-01-23 | criteria provided, single submitter | clinical testing |