Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000711529 | SCV000722652 | likely benign | not provided | 2020-09-03 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000711529 | SCV000841907 | benign | not provided | 2018-06-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001081409 | SCV001002754 | likely benign | Charcot-Marie-Tooth disease axonal type 2O | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000711529 | SCV001334502 | likely benign | not provided | 2022-06-01 | criteria provided, single submitter | clinical testing | DYNC1H1: BP4, BP7 |
Ambry Genetics | RCV002420621 | SCV002720418 | likely benign | Inborn genetic diseases | 2017-11-13 | 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. |