ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.3379+13G>A

gnomAD frequency: 0.01966  dbSNP: rs2885752
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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 RCV000248158 SCV000305297 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000279463 SCV000380615 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812682 SCV001472676 benign not provided 2024-10-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002243982 SCV002514629 benign von Willebrand disease type 1 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002243983 SCV002514630 benign von Willebrand disease type 3 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002243984 SCV002514632 benign von Willebrand disease type 2 2021-12-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494716 SCV002804702 likely benign von Willebrand disease type 1; von Willebrand disease type 3; von Willebrand disease type 2 2021-10-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001812682 SCV005213662 likely benign not provided criteria provided, single submitter not provided

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