ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.3240T>C (p.Tyr1080=)

gnomAD frequency: 0.09832  dbSNP: rs4021576
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251586 SCV000305295 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000349450 SCV000380619 likely benign Hereditary von Willebrand disease 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755442 SCV000605579 benign not provided 2020-05-22 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000755442 SCV000889901 benign not provided 2022-04-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000755442 SCV001101634 benign not provided 2017-05-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002243976 SCV002514639 benign von Willebrand disease type 1 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002243977 SCV002514640 benign von Willebrand disease type 3 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002243978 SCV002514641 benign von Willebrand disease type 2 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000755442 SCV005213665 likely benign not provided criteria provided, single submitter not provided

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