ClinVar Miner

Submissions for variant NM_001366110.1(PAX4):c.543A>G (p.Gln181=)

gnomAD frequency: 0.05634  dbSNP: rs327517
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000117895 SCV000311405 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000338737 SCV000466605 likely benign Maturity onset diabetes mellitus in young 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001682819 SCV001905065 benign not provided 2018-09-29 criteria provided, single submitter clinical testing
Invitae RCV001682819 SCV002402601 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117895 SCV000152168 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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