Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001405434 | SCV001607355 | likely benign | Pitt-Hopkins-like syndrome 2 | 2022-11-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000868884 | SCV001820508 | likely benign | not provided | 2021-01-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002336803 | SCV002639724 | likely benign | Inborn genetic diseases | 2020-08-31 | 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. |