ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.755C>T (p.Pro252Leu)

gnomAD frequency: 0.01042  dbSNP: rs34397615
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Total submissions: 6
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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 RCV000029316 SCV000051962 likely benign Polyglandular autoimmune syndrome, type 1 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely benign.
Counsyl RCV000029316 SCV000220138 likely benign Polyglandular autoimmune syndrome, type 1 2014-03-03 criteria provided, single submitter literature only
Invitae RCV000029316 SCV000629958 benign Polyglandular autoimmune syndrome, type 1 2024-01-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818184 SCV002067888 benign not specified 2021-04-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000029316 SCV002801166 likely benign Polyglandular autoimmune syndrome, type 1 2022-04-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV000029316 SCV001460107 benign Polyglandular autoimmune syndrome, type 1 2020-06-17 no assertion criteria provided clinical testing

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