Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002318352 | SCV000851755 | likely benign | Inborn genetic diseases | 2017-05-31 | 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. |
Invitae | RCV000861971 | SCV001002395 | benign | Charcot-Marie-Tooth disease axonal type 2O | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001675961 | SCV001893152 | benign | not provided | 2020-12-23 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001816789 | SCV002069369 | likely benign | not specified | 2018-11-20 | criteria provided, single submitter | clinical testing |