ClinVar Miner

Submissions for variant NM_015175.3(NBEAL2):c.5502_5509del (p.Tyr1835fs)

dbSNP: rs2107416663
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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 RCV002245450 SCV002515711 likely pathogenic Gray platelet syndrome no assertion criteria provided research

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