Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001050405 | SCV001214509 | likely benign | Retinitis pigmentosa 12; Leber congenital amaurosis 8 | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004031563 | SCV004852068 | likely benign | Inborn genetic diseases | 2023-09-23 | 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. |
Natera, |
RCV001827318 | SCV002090180 | uncertain significance | Leber congenital amaurosis | 2020-03-04 | no assertion criteria provided | clinical testing |