ClinVar Miner

Submissions for variant NM_001170629.2(CHD8):c.347del (p.Thr116fs)

dbSNP: rs1135401763
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000496959 SCV000586703 pathogenic Intellectual developmental disorder with autism and macrocephaly 2017-08-01 criteria provided, single submitter clinical testing De novo LOF varaiant in a patient with mild ID, wide ventricles, constipation, social difficulties.

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