Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002525709 | SCV000561773 | likely benign | Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis | 2023-10-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002383897 | SCV002671574 | likely benign | Dyskeratosis congenita; Hereditary cancer-predisposing syndrome | 2022-05-04 | 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. |
KCCC/NGS Laboratory, |
RCV003316623 | SCV004015602 | likely benign | Acute myeloid leukemia | 2023-07-07 | criteria provided, single submitter | clinical testing |