Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001063843 | SCV001228706 | likely benign | Rett syndrome, congenital variant | 2023-08-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001566232 | SCV001789720 | likely benign | not provided | 2019-12-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002339319 | SCV002636613 | 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: seen in unaffected individuals, 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. |