ClinVar Miner

Submissions for variant NM_001170629.2(CHD8):c.2435G>A (p.Arg812Gln)

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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, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV003326311 SCV004032486 likely pathogenic Intellectual developmental disorder with autism and macrocephaly 2023-03-21 criteria provided, single submitter clinical testing

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