Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000162528 | SCV000212925 | likely benign | Hereditary cancer-predisposing syndrome | 2015-11-17 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Counsyl | RCV000412114 | SCV000489889 | benign | Fanconi anemia complementation group O | 2016-07-11 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000409708 | SCV000489890 | benign | Breast-ovarian cancer, familial, susceptibility to, 3 | 2016-07-11 | criteria provided, single submitter | clinical testing |