Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002525683 | SCV000561722 | likely benign | Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001821370 | SCV002068597 | likely benign | not specified | 2019-06-11 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002256312 | SCV002533117 | likely benign | Dyskeratosis congenita | 2021-01-13 | criteria provided, single submitter | curation | |
Ambry Genetics | RCV002418475 | SCV002718930 | likely benign | Dyskeratosis congenita; Hereditary cancer-predisposing syndrome | 2022-02-23 | 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. |