Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002314416 | SCV000847957 | benign | Inborn genetic diseases | 2016-10-07 | 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 | RCV000870604 | SCV001012121 | benign | KBG syndrome | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001572237 | SCV001796842 | likely benign | not provided | 2021-02-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000870604 | SCV002525170 | benign | KBG syndrome | 2021-12-05 | criteria provided, single submitter | clinical testing |