Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000462605 | SCV000553251 | likely benign | Developmental and epileptic encephalopathy 94 | 2023-12-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001721503 | SCV000618866 | likely benign | not provided | 2020-04-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002329076 | SCV002639648 | benign | Inborn genetic diseases | 2020-04-10 | 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. |
Ce |
RCV001721503 | SCV004130949 | likely benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | CHD2: BS2 |