Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000649572 | SCV000771401 | likely benign | Charcot-Marie-Tooth disease axonal type 2O | 2023-03-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002343347 | SCV002640783 | likely benign | Inborn genetic diseases | 2019-11-01 | 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. |
Ce |
RCV003311869 | SCV004010323 | likely benign | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | DYNC1H1: PP2, BP4, BS1 |