Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000996566 | SCV001151353 | likely benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | GFAP: BP4 |
Invitae | RCV000996566 | SCV001669016 | likely benign | not provided | 2023-10-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002521111 | SCV003692040 | likely benign | Inborn genetic diseases | 2022-01-31 | 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. |