ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.117C>G (p.Pro39=)

dbSNP: rs1033297636
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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 RCV001394144 SCV001595826 likely benign Polyglandular autoimmune syndrome, type 1 2022-11-02 criteria provided, single submitter clinical testing

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