ClinVar Miner

Submissions for variant NM_001170629.2(CHD8):c.3712C>T (p.Gln1238Ter)

dbSNP: rs397514551
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centogene AG - the Rare Disease Company RCV000032829 SCV002059345 pathogenic Intellectual developmental disorder with autism and macrocephaly 2021-10-05 criteria provided, single submitter clinical testing
OMIM RCV000032829 SCV000056598 pathogenic Intellectual developmental disorder with autism and macrocephaly 2012-12-21 no assertion criteria provided literature only

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