ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.2442+5G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003340807 SCV004047546 uncertain significance von Willebrand disease type 3 criteria provided, single submitter clinical testing The splice site c.2442+5G>A variant has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.2442+5G>A variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant has not been reported to the ClinVar database. Loss of function variants have been previously reported to be disease causing. This variant shows conflicting interpretations by splice tools. For these reasons, this variant has been classified as Uncertain Significance (VUS).

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