Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000249638 | SCV000312493 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV001080541 | SCV000563175 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002311390 | SCV000846918 | benign | Inborn genetic diseases | 2016-03-21 | 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. |
Gene |
RCV001080541 | SCV001948681 | benign | not provided | 2019-07-18 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003457664 | SCV004181108 | benign | Developmental and epileptic encephalopathy, 18 | 2023-04-11 | criteria provided, single submitter | clinical testing |