ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.996-7C>T

gnomAD frequency: 0.00026  dbSNP: rs568895777
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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 RCV001514606 SCV001722491 benign Polyglandular autoimmune syndrome, type 1 2023-12-15 criteria provided, single submitter clinical testing

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