ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.3795G>A (p.Pro1265=)

gnomAD frequency: 0.03767  dbSNP: rs2228319
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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 RCV000250165 SCV000305309 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000367203 SCV000380605 likely benign Hereditary von Willebrand disease 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755445 SCV000605577 benign not provided 2020-08-11 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000755445 SCV000889910 benign not provided 2022-06-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244006 SCV002514606 benign von Willebrand disease type 1 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244007 SCV002514607 benign von Willebrand disease type 3 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244008 SCV002514608 benign von Willebrand disease type 2 2021-12-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503928 SCV002804647 benign von Willebrand disease type 1; von Willebrand disease type 3; von Willebrand disease type 2 2022-04-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000755445 SCV005213655 likely benign not provided criteria provided, single submitter not provided

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