ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.426G>A (p.Ala142=)

gnomAD frequency: 0.00009  dbSNP: rs748305262
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 RCV000555088 SCV000629954 likely benign Polyglandular autoimmune syndrome, type 1 2024-01-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003431074 SCV004153793 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing AIRE: BP4, BP7

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