Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000934466 | SCV000601258 | likely benign | not provided | 2020-02-13 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000506621 | SCV000919494 | likely benign | not specified | 2019-08-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000934466 | SCV001080188 | likely benign | not provided | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002420277 | SCV002729846 | likely benign | Inborn genetic diseases | 2022-02-17 | 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. |