ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1344C>T (p.His448=)

gnomAD frequency: 0.00024  dbSNP: rs201131119
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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 RCV000559074 SCV000629946 likely benign Polyglandular autoimmune syndrome, type 1 2024-01-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001703189 SCV004153801 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing AIRE: BP4, BP7
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001703189 SCV001928707 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001703189 SCV001968472 likely benign not provided no assertion criteria provided clinical testing

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