ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.1879-14A>G

gnomAD frequency: 0.00002  dbSNP: rs1186417459
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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 RCV002245329 SCV002515512 uncertain significance Platelet-type bleeding disorder 16 no assertion criteria provided research

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