ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1279-18C>T

gnomAD frequency: 0.00839  dbSNP: rs72650678
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029306 SCV000051952 uncertain Polyglandular autoimmune syndrome, type 1 2011-08-18 criteria provided, single submitter curation Converted during submission to Uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000029306 SCV001727123 benign Polyglandular autoimmune syndrome, type 1 2024-01-31 criteria provided, single submitter clinical testing

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