Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001478092 | SCV001682350 | likely benign | Familial melanoma | 2022-01-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002378960 | SCV002689185 | likely benign | Hereditary cancer-predisposing syndrome | 2019-09-02 | 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. |