ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.254A>G (p.Tyr85Cys) (rs179363882)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000175592 SCV000485164 pathogenic Polyglandular autoimmune syndrome, type 1 2015-12-19 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000059056 SCV000227107 pathogenic not provided 2014-06-13 criteria provided, single submitter clinical testing
UniProtKB/Swiss-Prot RCV000059056 SCV000090577 not provided not provided no assertion provided not provided

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