ClinVar Miner

Submissions for variant NM_205768.3(ZBTB18):c.1283T>G (p.Phe428Cys)

dbSNP: rs1572531730
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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 RCV000995917 SCV001150315 likely pathogenic Intellectual disability, autosomal dominant 22 2019-07-02 criteria provided, single submitter clinical testing

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