Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000191116 | SCV000245521 | pathogenic | Lissencephaly due to LIS1 mutation | 2013-05-16 | criteria provided, single submitter | clinical testing | This variant has been previously reported as disease-causing and was found once in our laboratory in a 19-year-old female with lissencephaly, intellectual disability, hypertonia, epilepsy, microcephaly |