ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.3485C>T (p.Pro1162Leu)

gnomAD frequency: 0.05671  dbSNP: rs566672558
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000254215 SCV000305301 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000283100 SCV000380612 likely benign Hereditary von Willebrand disease 2016-06-14 criteria provided, single submitter clinical testing
Laboratory of Hematology, Radboud University Medical Center RCV002264675 SCV002546281 benign von Willebrand disease type 1 2020-12-10 criteria provided, single submitter research
Breakthrough Genomics, Breakthrough Genomics RCV004705080 SCV005213659 likely benign not provided criteria provided, single submitter not provided

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