ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.3379+7A>C

gnomAD frequency: 0.09700  dbSNP: rs113446850
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000254545 SCV000305298 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000395662 SCV000380617 benign Hereditary von Willebrand disease 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000760117 SCV000605581 benign not provided 2020-05-22 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000760117 SCV000889903 benign not provided 2022-04-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002243985 SCV002514633 benign von Willebrand disease type 1 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002243986 SCV002514634 benign von Willebrand disease type 3 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002243987 SCV002514635 benign von Willebrand disease type 2 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000760117 SCV005236789 benign not provided criteria provided, single submitter not provided

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