ClinVar Miner

Submissions for variant NM_003855.5(IL18R1):c.-29+2476T>G

gnomAD frequency: 0.31111  dbSNP: rs12987977
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Chongqing Key Laboratory of Ophthalmology and Chongqing Eye Institute, The First Affiliated Hospital of Chongqing Medical University RCV001250483 SCV001334435 association Behcet disease 2020-01-29 criteria provided, single submitter case-control

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