Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000711178 | SCV000841509 | likely benign | not provided | 2018-04-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002317940 | SCV000850066 | benign | Inborn genetic diseases | 2018-12-06 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Invitae | RCV001081994 | SCV001009079 | likely benign | Developmental and epileptic encephalopathy 94 | 2024-01-17 | criteria provided, single submitter | clinical testing |