ClinVar Miner

Submissions for variant NM_015175.3(NBEAL2):c.5497G>A (p.Glu1833Lys)

gnomAD frequency: 0.00001  dbSNP: rs1341020147
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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 RCV002245451 SCV002515712 likely pathogenic Gray platelet syndrome no assertion criteria provided research

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