ClinVar Miner

Submissions for variant NM_006565.4(CTCF):c.329dup (p.Gly111fs)

dbSNP: rs2052056650
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Total submissions: 2
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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 RCV001293705 SCV002026313 pathogenic Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome 2019-12-21 criteria provided, single submitter research
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital RCV001293705 SCV001482348 pathogenic Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome 2019-05-31 no assertion criteria provided research

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