ClinVar Miner

Submissions for variant NM_001379659.1(ZNF142):c.916C>T (p.Gln306Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003493250 SCV004238811 likely pathogenic Neurodevelopmental disorder with impaired speech and hyperkinetic movements 2023-05-09 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003493250 SCV004809844 uncertain significance Neurodevelopmental disorder with impaired speech and hyperkinetic movements 2024-04-04 criteria provided, single submitter clinical testing

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