Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002539081 | SCV001012049 | likely benign | Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis | 2023-12-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002442850 | SCV002733234 | likely benign | Dyskeratosis congenita; Hereditary cancer-predisposing syndrome | 2022-09-13 | 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. |
Ce |
RCV003432823 | SCV004153856 | likely benign | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | TERT: BP4, BP7 |