Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002518377 | SCV000291863 | benign | Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000499661 | SCV000597458 | likely benign | not specified | 2017-04-07 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000732368 | SCV000860320 | uncertain significance | not provided | 2018-04-02 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002256178 | SCV002533137 | likely benign | Dyskeratosis congenita | 2021-10-20 | criteria provided, single submitter | curation | |
Ambry Genetics | RCV002436045 | SCV002752291 | likely benign | Dyskeratosis congenita; Hereditary cancer-predisposing syndrome | 2016-11-03 | 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, |
RCV003316311 | SCV004015588 | benign | Acute myeloid leukemia | 2023-07-07 | criteria provided, single submitter | clinical testing |