ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.510A>G (p.Ala170=)

gnomAD frequency: 0.00113  dbSNP: rs146992760
Minimum review status: Collection method:
Minimum conflict level:
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 RCV000883288 SCV001026583 likely benign Polyglandular autoimmune syndrome, type 1 2025-01-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV000883288 SCV002083858 benign Polyglandular autoimmune syndrome, type 1 2019-10-22 no assertion criteria provided clinical testing

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