Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001087087 | SCV000551569 | likely benign | Charcot-Marie-Tooth disease axonal type 2F | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000762456 | SCV000892778 | uncertain significance | not provided | 2018-05-01 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000762456 | SCV001144216 | likely benign | not provided | 2019-04-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002411496 | SCV002715489 | likely benign | Inborn genetic diseases | 2020-12-07 | 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. |