Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000229080 | SCV000283582 | likely benign | Fanconi anemia | 2023-10-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002347858 | SCV002647900 | likely benign | Hereditary cancer-predisposing syndrome | 2021-03-06 | 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, |
RCV001273991 | SCV004017615 | likely benign | Fanconi anemia complementation group C | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001273991 | SCV001457652 | likely benign | Fanconi anemia complementation group C | 2020-09-16 | no assertion criteria provided | clinical testing |