Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000589499 | SCV000694434 | likely benign | not specified | 2019-08-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001083662 | SCV001013368 | likely benign | Wilson disease | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000871678 | SCV001156178 | likely benign | not provided | 2022-06-01 | criteria provided, single submitter | clinical testing | ATP7B: BP4, BP7 |
Ambry Genetics | RCV003159989 | SCV003911077 | likely benign | Inborn genetic diseases | 2023-01-22 | 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, |
RCV001083662 | SCV001456172 | uncertain significance | Wilson disease | 2020-04-15 | no assertion criteria provided | clinical testing |