ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.63C>T (p.Ala21=)

gnomAD frequency: 0.00176  dbSNP: rs371796437
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Total submissions: 6
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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 RCV000588517 SCV000696655 likely benign not provided 2016-03-07 criteria provided, single submitter clinical testing
Invitae RCV001079773 SCV000754677 benign Polyglandular autoimmune syndrome, type 1 2024-01-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821712 SCV002067886 likely benign not specified 2018-09-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000588517 SCV002821092 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing AIRE: BP4, BP7
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000588517 SCV001932277 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000588517 SCV001967139 likely benign not provided no assertion criteria provided clinical testing

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