ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.87G>A (p.Leu29=)

dbSNP: rs2146375160
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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 RCV002124095 SCV002442073 likely benign Polyglandular autoimmune syndrome, type 1 2021-02-04 criteria provided, single submitter clinical testing

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