ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.4312-1G>C

dbSNP: rs1973640822
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001255365 SCV001431695 pathogenic Intellectual disability 2020-08-03 criteria provided, single submitter clinical testing The variant c.4312-1G>C, p.(?) was identified in an individual with neurodevelopmental disorder (NDD) and classified as Pathogenic according to ACMG guidelines. Inheritance for this variant was P.The variant likely explains the NDD in this individual.
Institute of Human Genetics, University of Leipzig Medical Center RCV001262828 SCV001440839 uncertain significance Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2019-01-01 criteria provided, single submitter clinical testing This variant was identified as compound heterozygous.

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.