ClinVar Miner

Submissions for variant NM_001379659.1(ZNF142):c.5098C>T (p.Arg1700Trp)

gnomAD frequency: 0.00003  dbSNP: rs367658234
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Tumer Group, Copenhagen University Hospital, Rigshospitalet RCV000770920 SCV006074655 likely pathogenic Neurodevelopmental disorder with impaired speech and hyperkinetic movements 2025-04-15 criteria provided, single submitter research
OMIM RCV000770920 SCV000902419 pathogenic Neurodevelopmental disorder with impaired speech and hyperkinetic movements 2019-05-10 no assertion criteria provided literature only
Advanced Center For Translational And Genetic Medicine, Ann & Robert H. Lurie Children's Hospital Of Chicago RCV000770920 SCV000925594 uncertain significance Neurodevelopmental disorder with impaired speech and hyperkinetic movements 2019-03-08 no assertion criteria provided research

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