ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.998-27C>T

gnomAD frequency: 0.16358  dbSNP: rs55907031
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248163 SCV000305343 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812686 SCV000605584 benign not provided 2020-03-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244067 SCV002514710 benign von Willebrand disease type 1 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244068 SCV002514711 benign von Willebrand disease type 3 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244069 SCV002514712 benign von Willebrand disease type 2 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001812686 SCV005236803 benign not provided criteria provided, single submitter not provided

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