ClinVar Miner

Submissions for variant NM_212550.5(BLOC1S3):c.86G>T (p.Arg29Leu)

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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 RCV002280980 SCV002569272 uncertain significance Hermansky-Pudlak syndrome 8 criteria provided, single submitter clinical testing

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