ClinVar Miner

Submissions for variant NM_006565.4(CTCF):c.958C>G (p.Arg320Gly)

dbSNP: rs1161257134
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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 Munich, Klinikum Rechts Der Isar, TU München RCV001254150 SCV001430099 likely pathogenic Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome 2020-07-14 criteria provided, single submitter clinical testing

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