ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1049C>G (p.Pro350Arg)

dbSNP: rs1013117342
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001366044 SCV001562332 uncertain significance Polyglandular autoimmune syndrome, type 1 2021-08-27 criteria provided, single submitter clinical testing

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