ClinVar Miner

Submissions for variant NM_001170629.2(CHD8):c.4378C>T (p.Arg1460Ter) (rs1454466097)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Klinikum rechts der Isar RCV000578341 SCV000680172 pathogenic Autism, susceptibility to, 18 2017-09-08 no assertion criteria provided clinical testing
GenomeConnect - Simons Searchlight RCV001265455 SCV001443587 pathogenic Autism spectrum disorder 2017-11-17 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2017-11-17 and interpreted as Pathogenic. Variant was initially reported on 2017-08-29 by GTR ID of laboratory name Klinikum rechts der Isar Technische Universitat Munchen . The reporting laboratory might also submit to ClinVar.

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