Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002530515 | SCV000770748 | likely benign | Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis | 2023-12-31 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002256450 | SCV002533120 | likely benign | Dyskeratosis congenita | 2021-10-14 | criteria provided, single submitter | curation | |
Ambry Genetics | RCV002422373 | SCV002718513 | likely benign | Dyskeratosis congenita; Hereditary cancer-predisposing syndrome | 2022-02-26 | 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. |