ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.840C>T (p.Pro280=)

gnomAD frequency: 0.00001  dbSNP: rs772423300
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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 RCV000979713 SCV001127658 likely benign Polyglandular autoimmune syndrome, type 1 2024-01-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV000979713 SCV001460109 uncertain significance Polyglandular autoimmune syndrome, type 1 2020-01-24 no assertion criteria provided clinical testing

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