Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002526498 | SCV000561776 | likely benign | Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001821376 | SCV002066816 | likely benign | not specified | 2021-06-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002411563 | SCV002716332 | likely benign | Dyskeratosis congenita; Hereditary cancer-predisposing syndrome | 2022-02-15 | 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. |
KCCC/NGS Laboratory, |
RCV003316624 | SCV004015608 | likely benign | Acute myeloid leukemia | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003960106 | SCV004778468 | likely benign | TERT-related condition | 2021-12-13 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |