Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000192650 | SCV000248429 | pathogenic | Lissencephaly due to LIS1 mutation | 2013-05-01 | criteria provided, single submitter | clinical testing |