ClinVar Miner

Submissions for variant NM_006565.4(CTCF):c.1025G>A (p.Arg342His)

dbSNP: rs1002125753
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001592697 SCV001823248 pathogenic not provided 2024-07-23 criteria provided, single submitter clinical testing Not observed at significant frequency 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: 36454652, 28319062, KangSR[2023]article, 31239556)
Institute of Human Genetics, University of Leipzig Medical Center RCV001780414 SCV002026296 likely pathogenic Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome 2023-10-13 criteria provided, single submitter clinical testing Criteria applied: PS4_MOD,PM1,PM5,PM2_SUP
Suma Genomics RCV001780414 SCV002097024 likely pathogenic Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome criteria provided, single submitter clinical testing

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