ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs1454466097
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000578341 SCV000680172 pathogenic Intellectual developmental disorder with autism and macrocephaly 2017-09-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002263815 SCV002545150 pathogenic not provided 2022-06-01 criteria provided, single submitter clinical testing CHD8: PVS1, PM2, PS2:Moderate
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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