ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.3157dup (p.Gln1053fs)

dbSNP: rs2136420496
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV001420363 SCV001622522 pathogenic von Willebrand disease type 1 2021-04-28 criteria provided, single submitter research
GeneDx RCV005054370 SCV005688086 pathogenic not provided 2024-07-31 criteria provided, single submitter clinical testing Identified in the apparently homozygous state in a single individual from a cohort of patients with bleeding disorders (PMID: 34272389); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 34272389)

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