ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.180C>T (p.His60=)

gnomAD frequency: 0.00016  dbSNP: rs201591958
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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 RCV001466821 SCV001670832 likely benign Polyglandular autoimmune syndrome, type 1 2024-01-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001466821 SCV002083847 likely benign Polyglandular autoimmune syndrome, type 1 2020-03-28 no assertion criteria provided clinical testing

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