Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000476608 | SCV000548831 | likely benign | Charcot-Marie-Tooth disease axonal type 2O | 2024-01-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002411470 | SCV002675513 | benign | Inborn genetic diseases | 2018-11-24 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |