ClinVar Miner

Submissions for variant NM_001366110.1(PAX4):c.*190C>T

gnomAD frequency: 0.00426  dbSNP: rs2233585
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000354202 SCV000466591 likely benign Maturity onset diabetes mellitus in young 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001550281 SCV001770584 likely benign not provided 2018-12-12 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV003151046 SCV003839812 likely benign not specified 2022-08-31 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003902395 SCV004722182 benign PAX4-related disorder 2019-06-26 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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