ClinVar Miner

Submissions for variant NM_001379659.1(ZNF142):c.1892del (p.Cys631fs)

dbSNP: rs1559296368
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Total submissions: 3
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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 RCV000770918 SCV001149988 pathogenic Neurodevelopmental disorder with impaired speech and hyperkinetic movements 2019-06-13 criteria provided, single submitter clinical testing
OMIM RCV000770918 SCV000902417 pathogenic Neurodevelopmental disorder with impaired speech and hyperkinetic movements 2019-05-13 no assertion criteria provided literature only
Advanced Center For Translational And Genetic Medicine, Ann & Robert H. Lurie Children's Hospital Of Chicago RCV000770918 SCV000925590 likely pathogenic Neurodevelopmental disorder with impaired speech and hyperkinetic movements 2019-03-08 no assertion criteria provided research

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