ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1637G>C (p.Ter546Ser)

dbSNP: rs1568932096
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University RCV000761489 SCV000891605 likely pathogenic Polyglandular autoimmune syndrome, type 1 2024-06-12 criteria provided, single submitter curation
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV002508786 SCV002818157 likely pathogenic not provided 2022-12-17 criteria provided, single submitter clinical testing
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health RCV000761489 SCV004036184 pathogenic Polyglandular autoimmune syndrome, type 1 2023-09-14 criteria provided, single submitter clinical testing

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