Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001502280 | SCV001707108 | likely benign | Interstitial lung disease 2; Dyskeratosis congenita, autosomal dominant 2 | 2018-12-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002382172 | SCV002673941 | likely benign | Dyskeratosis congenita; Hereditary cancer-predisposing syndrome | 2022-04-25 | 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. |