Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000991531 | SCV001143029 | benign | not provided | 2018-09-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000991531 | SCV001768075 | likely benign | not provided | 2021-03-19 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002253763 | SCV002525155 | benign | KBG syndrome | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002253763 | SCV003248293 | benign | KBG syndrome | 2023-12-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002549761 | SCV003756376 | likely benign | Inborn genetic diseases | 2021-09-15 | 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. |