ClinVar Miner

Submissions for variant NM_015175.3(NBEAL2):c.2151G>C (p.Glu717Asp)

dbSNP: rs2107346255
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV001823792 SCV002073356 likely pathogenic Gray platelet syndrome 2021-11-16 criteria provided, single submitter clinical testing

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