Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Service de Biochimie Médicale et Biologie Moléculaire, |
RCV001810535 | SCV002059949 | likely pathogenic | Multiple congenital exostosis | 2022-01-14 | criteria provided, single submitter | clinical testing | PVS1 + PM2 |