Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000652830 | SCV000774702 | likely benign | Noonan syndrome 9 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001613429 | SCV001837185 | benign | not provided | 2019-01-28 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000652830 | SCV002763073 | likely benign | Noonan syndrome 9 | criteria provided, single submitter | clinical testing | ||
Fulgent Genetics, |
RCV000652830 | SCV002807762 | likely benign | Noonan syndrome 9 | 2021-11-28 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003945673 | SCV004762386 | likely benign | SOS2-related condition | 2019-10-23 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |