Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000556258 | SCV000655012 | benign | Cataract 21 multiple types; Ayme-Gripp syndrome | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001692191 | SCV001911223 | benign | not provided | 2020-06-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002526706 | SCV003682249 | benign | Inborn genetic diseases | 2022-05-29 | 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. |