ClinVar Miner

Submissions for variant NM_015175.3(NBEAL2):c.1793G>A (p.Trp598Ter)

dbSNP: rs1553659758
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503824 SCV000595902 pathogenic Gray platelet syndrome 2016-12-28 criteria provided, single submitter clinical testing

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