ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1104G>A (p.Pro368=)

gnomAD frequency: 0.00014  dbSNP: rs377079396
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000913294 SCV001058439 likely benign Polyglandular autoimmune syndrome, type 1 2023-12-30 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001293495 SCV001482079 likely benign not specified 2021-02-09 criteria provided, single submitter clinical testing

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