ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1537A>G (p.Arg513Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003141283 SCV003823083 uncertain significance Polyglandular autoimmune syndrome, type 1 2019-11-12 criteria provided, single submitter clinical testing

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