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: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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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