ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.5049A>C (p.Ala1683=)

gnomAD frequency: 0.01607  dbSNP: rs79275181
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000307103 SCV000332983 uncertain significance not provided 2015-07-13 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000291213 SCV000380592 uncertain significance Hereditary von Willebrand disease 2016-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820811 SCV002068268 uncertain significance not specified 2020-08-17 criteria provided, single submitter clinical testing
Mendelics RCV001820811 SCV002516740 benign not specified 2022-05-04 criteria provided, single submitter clinical testing

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