ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.3106C>T (p.Arg1036Ter) (rs1554597716)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578888 SCV000680502 pathogenic not provided 2016-10-31 criteria provided, single submitter clinical testing The R1036X nonsense variant in the CHD7 gene has been reported previously in association with CHARGE syndrome (Jongmans et al., 2006; Husu et al., 2013). Approximately 45% of CHD7 pathogenic variants are nonsense changes predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay (Janssen et al., 2012; Zentner et al, 2010). Therefore, we classify the variant as a pathogenic variant.
Centre for Translational Omics - GOSgene,University College London RCV000578162 SCV000778569 pathogenic CHARGE association 2018-03-16 criteria provided, single submitter clinical testing
SBielas Lab, Department of Human Genetics,University of Michigan RCV000578162 SCV000680055 pathogenic CHARGE association 2017-10-27 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV000578162 SCV001197961 likely pathogenic CHARGE association no assertion criteria provided research

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