ClinVar Miner

Submissions for variant NM_001170629.2(CHD8):c.4875G>A (p.Trp1625Ter)

dbSNP: rs1555314116
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV001795805 SCV002556394 pathogenic Intellectual developmental disorder with autism and macrocephaly 2022-07-05 criteria provided, single submitter clinical testing
Institute of Human Genetics, Cologne University RCV001795805 SCV002034869 likely pathogenic Intellectual developmental disorder with autism and macrocephaly no assertion criteria provided clinical testing

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