Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001815825 | SCV002063627 | likely benign | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | GFAP: BS1 |
Invitae | RCV001815825 | SCV002362481 | likely benign | not provided | 2023-07-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004040949 | SCV004875045 | likely benign | Inborn genetic diseases | 2022-11-30 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |