ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.117C>T (p.Pro39=)

gnomAD frequency: 0.00001  dbSNP: rs1033297636
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001453068 SCV001656751 likely benign Polyglandular autoimmune syndrome, type 1 2023-11-29 criteria provided, single submitter clinical testing

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