Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002312324 | SCV000846347 | benign | Inborn genetic diseases | 2016-04-15 | 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 | RCV001520816 | SCV001730015 | benign | KBG syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001683635 | SCV001903811 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001520816 | SCV002525152 | benign | KBG syndrome | 2021-12-05 | criteria provided, single submitter | clinical testing |