ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1203T>C (p.Pro401=)

gnomAD frequency: 0.05045  dbSNP: rs61737072
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116294 SCV000150212 benign not specified 2013-03-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000029305 SCV000629943 benign Polyglandular autoimmune syndrome, type 1 2024-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000710492 SCV000840726 benign not provided 2017-10-11 criteria provided, single submitter clinical testing
GeneDx RCV000710492 SCV001911820 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000710492 SCV005278188 benign not provided criteria provided, single submitter not provided
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029305 SCV000051951 benign Polyglandular autoimmune syndrome, type 1 2012-03-21 no assertion criteria provided clinical testing
Natera, Inc. RCV000029305 SCV001457187 benign Polyglandular autoimmune syndrome, type 1 2020-09-16 no assertion criteria provided clinical testing

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