ClinVar Miner

Submissions for variant NM_001170629.2(CHD8):c.1658C>A (p.Ser553Ter)

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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, University of Goettingen RCV004584251 SCV005068204 likely pathogenic Intellectual developmental disorder with autism and macrocephaly 2024-07-01 criteria provided, single submitter clinical testing

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