Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000858611 | SCV000514844 | benign | not provided | 2018-12-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000858611 | SCV000563161 | benign | not provided | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002314160 | SCV000848719 | benign | Inborn genetic diseases | 2018-01-16 | 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. |
Genome- |
RCV003445971 | SCV004174046 | benign | Developmental and epileptic encephalopathy, 18 | 2023-04-11 | criteria provided, single submitter | clinical testing |