ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.655G>A (p.Gly219Ser)

gnomAD frequency: 0.00004  dbSNP: rs139620961
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000291566 SCV000338370 uncertain significance not provided 2015-12-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000801112 SCV000940871 likely benign Polyglandular autoimmune syndrome, type 1 2024-11-13 criteria provided, single submitter clinical testing

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