ClinVar Miner

Submissions for variant NM_000212.3(ITGB3):c.2231T>C (p.Leu744Pro)

dbSNP: rs398122374
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Total submissions: 2
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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 RCV000043482 SCV004013088 uncertain significance Bleeding disorder, platelet-type, 24 criteria provided, single submitter clinical testing
OMIM RCV000043482 SCV000067294 pathogenic Bleeding disorder, platelet-type, 24 2013-02-01 no assertion criteria provided literature only

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