ClinVar Miner

Submissions for variant NM_015175.3(NBEAL2):c.4371_4375dup (p.Glu1459fs)

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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 RCV002284154 SCV002573465 likely pathogenic Gray platelet syndrome criteria provided, single submitter clinical testing

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