ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1279-19G>A

gnomAD frequency: 0.00039  dbSNP: rs369136366
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002179728 SCV002336996 likely benign Polyglandular autoimmune syndrome, type 1 2025-01-12 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005238201 SCV005884097 likely benign not specified 2024-12-11 criteria provided, single submitter clinical testing

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