Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000529197 | SCV000629005 | benign | Noonan syndrome | 2023-12-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002469185 | SCV002736728 | likely benign | not specified | 2022-03-23 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002469185 | SCV002766318 | benign | not specified | 2022-11-28 | criteria provided, single submitter | clinical testing |