ClinVar Miner

Submissions for variant NM_001170629.2(CHD8):c.1744C>T (p.Arg582Ter)

dbSNP: rs863224857
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UCLA Clinical Genomics Center, UCLA RCV000197443 SCV000255342 likely pathogenic Intellectual developmental disorder with autism and macrocephaly 2014-05-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003311713 SCV004010262 pathogenic not provided 2023-06-01 criteria provided, single submitter clinical testing CHD8: PVS1, PM2, PM6, PS4:Moderate

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