Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000648781 | SCV000770602 | benign | Aortic valve disease 2 | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002386089 | SCV002699590 | likely benign | Inborn genetic diseases | 2022-03-03 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003323658 | SCV004028943 | benign | not specified | 2023-07-21 | criteria provided, single submitter | clinical testing |