Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001483248 | SCV001687633 | likely benign | Charcot-Marie-Tooth disease axonal type 2O | 2024-01-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002356741 | SCV002657341 | likely benign | Inborn genetic diseases | 2018-01-19 | 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. |
Fulgent Genetics, |
RCV002489121 | SCV002804206 | likely benign | Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures; Charcot-Marie-Tooth disease axonal type 2O; Intellectual disability, autosomal dominant 13 | 2022-05-10 | criteria provided, single submitter | clinical testing |