Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000871786 | SCV001013498 | likely benign | Wilson disease | 2024-01-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002434124 | SCV002746953 | likely benign | Inborn genetic diseases | 2022-06-12 | 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. |
Natera, |
RCV000871786 | SCV002086835 | likely benign | Wilson disease | 2020-02-04 | no assertion criteria provided | clinical testing |