Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000249238 | SCV000303342 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000528641 | SCV000622973 | likely benign | Gorlin syndrome | 2023-11-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001016832 | SCV001177831 | likely benign | Hereditary cancer-predisposing syndrome | 2017-12-19 | 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. |