Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002312803 | SCV000847305 | likely benign | Inborn genetic diseases | 2016-07-26 | 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. |
Invitae | RCV000953978 | SCV001100579 | likely benign | Kleefstra syndrome 1 | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001731906 | SCV001982805 | likely benign | not provided | 2021-01-13 | criteria provided, single submitter | clinical testing |