Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000254471 | SCV000316913 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV002518669 | SCV000650739 | likely benign | Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002446497 | SCV002734175 | likely benign | Dyskeratosis congenita; Hereditary cancer-predisposing syndrome | 2022-02-13 | 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 |
RCV003430811 | SCV004153859 | likely benign | not provided | 2022-04-01 | criteria provided, single submitter | clinical testing | TERT: BP4, BP7 |