Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neuro |
RCV000585839 | SCV000693760 | likely pathogenic | Lissencephaly type 1 due to doublecortin gene mutation | 2018-01-01 | criteria provided, single submitter | clinical testing | |
Service de Génétique Moléculaire, |
RCV000585839 | SCV001432328 | likely benign | Lissencephaly type 1 due to doublecortin gene mutation | no assertion criteria provided | clinical testing |