ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.533G>C (p.Arg178Pro)

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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 RCV002281025 SCV002569352 uncertain significance Glanzmann thrombasthenia 1 criteria provided, single submitter clinical testing

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