Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Lupski Lab, |
RCV000656086 | SCV000598584 | likely pathogenic | Lissencephaly type 1 due to doublecortin gene mutation | 2017-09-01 | criteria provided, single submitter | research | this variant was indentified in an individual with malformations of cortical development |