ClinVar Miner

Submissions for variant NM_006565.4(CTCF):c.782-2A>G

dbSNP: rs1555534189
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622589 SCV000742898 likely pathogenic Inborn genetic diseases 2017-09-07 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001784177 SCV002026288 likely pathogenic Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome 2019-12-21 criteria provided, single submitter clinical testing
GeneDx RCV004721490 SCV005328127 pathogenic not provided 2023-08-22 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in an in-frame loss of the adjacent exon in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Observed in an individual with CTCF-related disorder in the published literature (Konrad et al., 2019); This variant is associated with the following publications: (PMID: 31239556, 36454652)

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