Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Génétique des Maladies du Développement, |
RCV001201163 | SCV001350834 | likely pathogenic | Hurler syndrome | 2020-06-20 | criteria provided, single submitter | clinical testing | PS2 PM2 PP3 PP4 |