Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001697888 | SCV000722758 | likely benign | not provided | 2019-11-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003538401 | SCV001081301 | likely benign | Familial adenomatous polyposis 1 | 2023-10-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001026062 | SCV001188371 | likely benign | Hereditary cancer-predisposing syndrome | 2018-03-08 | 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. |