ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.789C>T (p.Gly263=)

gnomAD frequency: 0.00099  dbSNP: rs138066507
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116298 SCV000150216 uncertain significance not provided 2013-10-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001082299 SCV001114681 benign Polyglandular autoimmune syndrome, type 1 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000116298 SCV001944298 benign not provided 2018-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000116298 SCV004153799 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing AIRE: BP4, BP7
Natera, Inc. RCV001082299 SCV001460108 benign Polyglandular autoimmune syndrome, type 1 2019-10-28 no assertion criteria provided clinical testing

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