ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.1110-6dup

dbSNP: rs534403271
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000605573 SCV000715425 likely benign not specified 2017-01-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001172057 SCV004221488 uncertain significance not provided 2022-07-01 criteria provided, single submitter clinical testing To the best of our knowledge, the variant has not been reported in the published literature. The frequency of this variant in the general population, 0.0014 (37/26114 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect VWF mRNA splicing .Based on the available information, we are unable to determine the clinical significance of this variant.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000605573 SCV001932949 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001172057 SCV001966263 likely benign not provided no assertion criteria provided clinical testing

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