ClinVar Miner

Submissions for variant NM_001170629.2(CHD8):c.4762A>T (p.Arg1588Trp)

dbSNP: rs1057519410
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV000417092 SCV000485042 likely benign Intellectual developmental disorder with autism and macrocephaly no assertion criteria provided clinical testing

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