Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000864078 | SCV001004831 | likely benign | Dyskeratosis congenita | 2024-07-24 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001816960 | SCV002066738 | likely benign | not specified | 2020-12-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000864078 | SCV005516538 | likely benign | Dyskeratosis congenita | 2024-11-30 | 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. |