ClinVar Miner

Submissions for variant NM_000173.7(GP1BA):c.1846_1852del (p.Asn616fs)

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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 RCV002281017 SCV002569336 pathogenic Bernard Soulier syndrome criteria provided, single submitter clinical testing

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