ClinVar Miner

Submissions for variant NM_001366110.1(PAX4):c.1014C>T (p.Ala338=)

gnomAD frequency: 0.00013  dbSNP: rs201607054
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000266109 SCV000466595 uncertain significance Maturity onset diabetes mellitus in young 2016-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000501869 SCV000596234 likely benign not specified 2017-03-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005090587 SCV005813687 likely benign not provided 2024-12-02 criteria provided, single submitter clinical testing

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