Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000464009 | SCV000560617 | likely benign | Fanconi anemia | 2023-11-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000563695 | SCV000673313 | likely benign | Hereditary cancer-predisposing syndrome | 2017-05-12 | 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. |
Gene |
RCV001613308 | SCV001838434 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000464009 | SCV002535096 | likely benign | Fanconi anemia | 2021-04-01 | criteria provided, single submitter | curation | |
Natera, |
RCV000464009 | SCV002081137 | likely benign | Fanconi anemia | 2020-11-10 | no assertion criteria provided | clinical testing |