Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002533410 | SCV000770772 | likely benign | Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002424500 | SCV002741200 | likely benign | Dyskeratosis congenita; Hereditary cancer-predisposing syndrome | 2022-02-15 | 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 |
RCV003437372 | SCV004153853 | likely benign | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | TERT: BP4, BP7 |