ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.453C>T (p.Thr151=)

gnomAD frequency: 0.00002  dbSNP: rs554372593
Minimum review status: Collection method:
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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 RCV000959643 SCV001106563 likely benign Polyglandular autoimmune syndrome, type 1 2024-01-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV000959643 SCV002083853 likely benign Polyglandular autoimmune syndrome, type 1 2021-01-15 no assertion criteria provided clinical testing

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