ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1326C>T (p.Asp442=)

gnomAD frequency: 0.00006  dbSNP: rs750033525
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 RCV000940495 SCV001086358 likely benign Polyglandular autoimmune syndrome, type 1 2023-11-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV000940495 SCV002076125 likely benign Polyglandular autoimmune syndrome, type 1 2021-04-02 no assertion criteria provided clinical testing

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