ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1476C>A (p.Pro492=)

dbSNP: rs72650679
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000936607 SCV001082377 likely benign Polyglandular autoimmune syndrome, type 1 2024-01-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV000936607 SCV001464232 uncertain significance Polyglandular autoimmune syndrome, type 1 2020-01-24 no assertion criteria provided clinical testing

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