Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000994086 | SCV001147401 | likely benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | NOTCH2: BP4 |
Invitae | RCV002068718 | SCV002491260 | likely benign | Hajdu-Cheney syndrome | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003160125 | SCV003864005 | likely benign | Inborn genetic diseases | 2023-01-31 | 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. |