ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.5369C>T (p.Pro1790Leu)

gnomAD frequency: 0.00001  dbSNP: rs551649729
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177518 SCV000229400 uncertain significance not provided 2015-06-05 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000330483 SCV000380590 uncertain significance Hereditary von Willebrand disease 2016-06-14 criteria provided, single submitter clinical testing

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