Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001437749 | SCV001640613 | likely benign | Wilson disease | 2023-01-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002434241 | SCV002744780 | likely benign | Inborn genetic diseases | 2019-07-12 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |
Fulgent Genetics, |
RCV001437749 | SCV002798110 | likely benign | Wilson disease | 2022-03-29 | criteria provided, single submitter | clinical testing |