ClinVar Miner

Submissions for variant NM_015557.3(CHD5):c.2735C>T (p.Ser912Phe)

dbSNP: rs1474624774
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics, University Hospital Essen RCV001376660 SCV001478005 likely pathogenic Global developmental delay; Intellectual disability 2021-01-18 criteria provided, single submitter research
GeneDx RCV002293520 SCV002586627 pathogenic not provided 2022-10-23 criteria provided, single submitter clinical testing Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 33944996)

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