ClinVar Miner

Submissions for variant NM_006565.4(CTCF):c.804_805del (p.Cys268_Glu269delinsTer)

dbSNP: rs2142828055
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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, University of Leipzig Medical Center RCV001785309 SCV002026286 pathogenic Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome 2019-12-21 criteria provided, single submitter clinical testing

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