Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002315368 | SCV000849191 | likely benign | Inborn genetic diseases | 2017-03-10 | 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. |
Gene |
RCV001561541 | SCV001784166 | likely benign | not provided | 2021-04-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002534568 | SCV003291650 | likely benign | Charcot-Marie-Tooth disease axonal type 2O | 2023-11-04 | criteria provided, single submitter | clinical testing |