ClinVar Miner

Submissions for variant NM_001170629.2(CHD8):c.2854C>T (p.Arg952Ter) (rs1131691548)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493912 SCV000582361 pathogenic not provided 2015-09-01 criteria provided, single submitter clinical testing The R952X variant in the CHD8 gene has not been reported previously as a pathogenic variant nor as a benign polymorphism, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. R952X was not observed in approximately 6,100 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret R952X as a pathogenic variant.
GenomeConnect - Simons Searchlight RCV001265458 SCV001443590 pathogenic Autism spectrum disorder 2016-03-22 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2016-03-22 and interpreted as Pathogenic. Variant was initially reported on 2015-09-18 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar.

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