Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002312422 | SCV000846840 | benign | Inborn genetic diseases | 2016-06-14 | criteria provided, single submitter | clinical testing | This alteration is classified as 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 | RCV000872106 | SCV001013874 | benign | KBG syndrome | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001712782 | SCV001942315 | benign | not provided | 2019-12-19 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000872106 | SCV002524216 | benign | KBG syndrome | 2021-12-05 | criteria provided, single submitter | clinical testing |