Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001697464 | SCV000718984 | likely benign | not provided | 2020-01-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000904599 | SCV001049122 | likely benign | Wilson disease | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003160087 | SCV003863115 | likely benign | Inborn genetic diseases | 2022-11-02 | 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. |