Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV004821373 | SCV005441775 | uncertain significance | Noonan syndrome 6 | 2025-01-02 | criteria provided, single submitter | clinical testing | PM2_sup: extremely low in population databases PP3: For a missense or a splicing region variant, computational prediction tools unanimously support a deleterious effect on the gene |