ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.531C>T (p.Leu177=)

gnomAD frequency: 0.00004  dbSNP: rs538568691
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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 RCV000880897 SCV001024022 likely benign Polyglandular autoimmune syndrome, type 1 2024-01-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001702856 SCV004153794 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing AIRE: BP4, BP7
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702856 SCV001931980 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001702856 SCV001968269 likely benign not provided no assertion criteria provided clinical testing

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