ClinVar Miner

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

dbSNP: rs1594344233
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Total submissions: 3
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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 pathogenic Intellectual developmental disorder with autism and macrocephaly 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

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