Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000875368 | SCV001017683 | likely benign | Noonan syndrome 9 | 2023-12-13 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001420893 | SCV001623331 | benign | not specified | 2021-04-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002416069 | SCV002720104 | likely benign | Cardiovascular phenotype | 2022-02-20 | 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. |
Genome- |
RCV000875368 | SCV002763150 | likely benign | Noonan syndrome 9 | criteria provided, single submitter | clinical testing |