ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.993C>A (p.Cys331Ter)

gnomAD frequency: 0.00003  dbSNP: rs147924974
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851924 SCV000900006 likely pathogenic Hereditary von Willebrand disease 2019-02-01 criteria provided, single submitter research

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