ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.908G>A (p.Arg303Gln)

gnomAD frequency: 0.00016  dbSNP: rs139808903
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000897725 SCV001041886 likely benign Polyglandular autoimmune syndrome, type 1 2024-01-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV000897725 SCV001460112 likely benign Polyglandular autoimmune syndrome, type 1 2020-06-08 no assertion criteria provided clinical testing

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