ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1296G>A (p.Ala432=)

gnomAD frequency: 0.00222  dbSNP: rs144359012
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000501983 SCV000051953 likely benign not specified 2019-12-17 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000501983 SCV000593078 likely benign not specified 2016-06-10 criteria provided, single submitter clinical testing
Invitae RCV000029307 SCV000629945 benign Polyglandular autoimmune syndrome, type 1 2024-01-29 criteria provided, single submitter clinical testing

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