Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001698067 | SCV000723676 | likely benign | not provided | 2021-05-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000861933 | SCV001002354 | benign | Charcot-Marie-Tooth Neuropathy X; Combined oxidative phosphorylation deficiency | 2023-12-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002350489 | SCV002650161 | likely benign | Inborn genetic diseases | 2019-07-11 | 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. |