ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.1229C>A (p.Pro410His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002281029 SCV002569358 pathogenic Glanzmann thrombasthenia 1 criteria provided, single submitter clinical testing

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