Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002533423 | SCV000770790 | likely benign | Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001816618 | SCV002065290 | likely benign | not specified | 2021-05-24 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002256451 | SCV002533122 | likely benign | Dyskeratosis congenita | 2021-04-15 | criteria provided, single submitter | curation | |
Ambry Genetics | RCV002422375 | SCV002718470 | likely benign | Dyskeratosis congenita; Hereditary cancer-predisposing syndrome | 2022-02-14 | 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. |