Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Foundation for Research in Genetics and Endocrinology, |
RCV000656496 | SCV000746271 | uncertain significance | Lissencephaly due to LIS1 mutation | 2017-02-11 | no assertion criteria provided | clinical testing | The observed variant c.118-14_118-10delTTTAT (3' splice site proximal) is not reported in 1000 Genomes and ExAC databases. The in silico prediction tool like MutationTaster2 predicted this variant as benign. However, the observed variation has previously been reported in a patient affected with classical lissencephaly (Fogli et al., 1999) |