Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000206634 | SCV000261227 | likely benign | Fanconi anemia | 2023-03-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001018930 | SCV001180227 | likely benign | Hereditary cancer-predisposing syndrome | 2018-03-28 | 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 |
RCV001723776 | SCV001950955 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001274471 | SCV001458694 | likely benign | Fanconi anemia complementation group C | 2020-09-16 | no assertion criteria provided | clinical testing |