ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.348G>A (p.Pro116=)

gnomAD frequency: 0.00066  dbSNP: rs74162060
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000540073 SCV000629953 benign Polyglandular autoimmune syndrome, type 1 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001541814 SCV001759847 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001541814 SCV004153790 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing AIRE: BP4, BP7

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