ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1116G>A (p.Ser372=)

gnomAD frequency: 0.00304  dbSNP: rs61737006
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000883289 SCV001026584 benign Polyglandular autoimmune syndrome, type 1 2024-01-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001293545 SCV001482142 likely benign not specified 2021-02-09 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001293545 SCV002067889 benign not specified 2021-08-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV000883289 SCV001464219 benign Polyglandular autoimmune syndrome, type 1 2019-11-11 no assertion criteria provided clinical testing

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