ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.372G>A (p.Pro124=)

gnomAD frequency: 0.00011  dbSNP: rs775117249
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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 RCV000887727 SCV001031306 likely benign Polyglandular autoimmune syndrome, type 1 2024-01-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000887727 SCV001781458 likely benign Polyglandular autoimmune syndrome, type 1 2021-07-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438560 SCV004153792 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing AIRE: BP4, BP7
Natera, Inc. RCV000887727 SCV001460098 likely benign Polyglandular autoimmune syndrome, type 1 2020-04-20 no assertion criteria provided clinical testing

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