Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Human Genetics, |
RCV001250767 | SCV001426178 | likely pathogenic | Noonan syndrome 9 | 2020-07-02 | criteria provided, single submitter | clinical testing | This variant is absent from gnomAD (PM2). Variants at the analogous position in SOS1 (c.806T>G and c.806T>C) have been classified as pathogenic (PM5_Strong). |