Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000499826 | SCV000597455 | likely benign | not specified | 2016-11-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003103998 | SCV001687667 | likely benign | Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis | 2024-01-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002376929 | SCV002686299 | likely benign | Dyskeratosis congenita; Hereditary cancer-predisposing syndrome | 2022-06-15 | 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. |