Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002314409 | SCV000847937 | benign | Inborn genetic diseases | 2019-05-09 | 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 | RCV000878176 | SCV001021036 | benign | KBG syndrome | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001675958 | SCV001892503 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000878176 | SCV002524183 | benign | KBG syndrome | 2021-12-05 | criteria provided, single submitter | clinical testing |