ClinVar Miner

Submissions for variant NM_001170629.2(CHD8):c.5607dup (p.Asp1870fs) (rs774152851)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624555 SCV000742238 pathogenic Inborn genetic diseases 2017-08-04 criteria provided, single submitter clinical testing
GenomeConnect - Simons Searchlight RCV001265456 SCV001443588 pathogenic Autism spectrum disorder 2018-02-09 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-02-09 and interpreted as Pathogenic. Variant was initially reported on 2017-08-30 by GTR ID of laboratory name 61756. The reporting laboratory might also submit to ClinVar.

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