ClinVar Miner

Submissions for variant NM_001379659.1(ZNF142):c.2221G>T (p.Ala741Ser)

gnomAD frequency: 0.44983  dbSNP: rs2230115
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001668100 SCV001891234 benign not provided 2021-05-05 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27346685)
Genome-Nilou Lab RCV002243396 SCV002514168 benign Neurodevelopmental disorder with impaired speech and hyperkinetic movements 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001668100 SCV005244489 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003984049 SCV004797031 benign ZNF142-related disorder 2019-10-30 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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