Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000663194 | SCV000786369 | likely benign | Multiple endocrine neoplasia, type 2a | 2018-04-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001456357 | SCV001660135 | likely benign | Multiple endocrine neoplasia, type 2 | 2024-01-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002442386 | SCV002732276 | benign | Hereditary cancer-predisposing syndrome | 2022-03-02 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Myriad Genetics, |
RCV000663194 | SCV004018062 | uncertain significance | Multiple endocrine neoplasia, type 2a | 2023-04-17 | criteria provided, single submitter | clinical testing | This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk. |