ClinVar Miner

Submissions for variant NM_001170629.2(CHD8):c.3519-2A>G (rs1594344233)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001555708 SCV001777165 pathogenic not provided 2020-04-16 criteria provided, single submitter clinical testing Identified as a de novo variant in association with autism but limited additional clinical information is available (O'Roak et al., 2012; Iossifov et al., 2014; Guo et al., 2019); Canonical splice site variant in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016) This variant is associated with the following publications: (PMID: 31981491, 28714951, 31332282, 30504930, 24998929, 23160955, 25363768, 28191890)
OMIM RCV000032828 SCV000056597 risk factor Autism, susceptibility to, 18 2012-12-21 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV001291274 SCV001479715 likely pathogenic Autism spectrum disorder no assertion criteria provided research

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.