Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002315269 | SCV000848974 | likely benign | Inborn genetic diseases | 2017-02-10 | 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 | RCV001522433 | SCV001731978 | benign | KBG syndrome | 2023-09-20 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001522433 | SCV002524202 | benign | KBG syndrome | 2021-12-05 | criteria provided, single submitter | clinical testing |