ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.534G>A (p.Gly178=)

gnomAD frequency: 0.00001  dbSNP: rs1160671214
Minimum review status: Collection method:
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001275208 SCV001684452 likely benign Polyglandular autoimmune syndrome, type 1 2023-06-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275208 SCV001460103 uncertain significance Polyglandular autoimmune syndrome, type 1 2020-03-10 no assertion criteria provided clinical testing

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