Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001510819 | SCV001717957 | benign | Noonan syndrome 9 | 2023-12-06 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001526956 | SCV001737729 | benign | not specified | 2021-06-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002409117 | SCV002675439 | likely benign | Cardiovascular phenotype | 2022-05-30 | 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- |
RCV001510819 | SCV002763090 | benign | Noonan syndrome 9 | criteria provided, single submitter | clinical testing | ||
Fulgent Genetics, |
RCV001510819 | SCV002802006 | likely benign | Noonan syndrome 9 | 2021-09-21 | criteria provided, single submitter | clinical testing |