ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.497C>T (p.Pro166Leu)

gnomAD frequency: 0.00580  dbSNP: rs11910214
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224112 SCV000281470 likely benign not provided 2015-02-17 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV001084441 SCV000629955 benign Polyglandular autoimmune syndrome, type 1 2024-01-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818548 SCV002067887 benign not specified 2019-04-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001084441 SCV002083856 benign Polyglandular autoimmune syndrome, type 1 2019-12-05 no assertion criteria provided clinical testing

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