Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001697478 | SCV000719918 | likely benign | not provided | 2018-11-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000870090 | SCV001011565 | likely benign | Walker-Warburg congenital muscular dystrophy | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002377265 | SCV002667008 | likely benign | Cardiovascular phenotype | 2019-10-03 | 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. |