Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001172113 | SCV001335062 | likely pathogenic | not provided | 2020-03-01 | criteria provided, single submitter | clinical testing | |
Génétique des Maladies du Développement, |
RCV001799739 | SCV002043798 | pathogenic | Severe global developmental delay | 2021-12-29 | criteria provided, single submitter | clinical testing | already LP in ClinVar. predicted deleterious. gnomAD=0 |