ClinVar Miner

Submissions for variant NM_001366110.1(PAX4):c.*402T>C

gnomAD frequency: 0.07655  dbSNP: rs327519
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000348262 SCV000466588 likely benign Maturity onset diabetes mellitus in young 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705425 SCV005221549 likely benign not provided criteria provided, single submitter not provided

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