ClinVar Miner

Submissions for variant NM_000430.4(PAFAH1B1):c.118-11_118-7del (rs1555526298)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 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)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.