Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000880716 | SCV000613742 | likely benign | not provided | 2020-02-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000880716 | SCV001023835 | benign | not provided | 2023-10-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000880716 | SCV001812592 | likely benign | not provided | 2021-03-08 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000880716 | SCV002048995 | likely benign | not provided | 2021-03-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002525039 | SCV003687114 | likely benign | Inborn genetic diseases | 2022-08-19 | 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. |