ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.3720G>A (p.Pro1240=)

gnomAD frequency: 0.00003  dbSNP: rs141792415
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000275030 SCV000380606 uncertain significance Hereditary von Willebrand disease 2016-06-14 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004782352 SCV005395689 likely benign not specified 2024-09-05 criteria provided, single submitter clinical testing

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