ClinVar Miner

Submissions for variant NM_000552.4(VWF):c.2880G>A (p.Arg960=) (rs1800380)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000176272 SCV000227902 benign not specified 2014-09-29 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000176272 SCV000305293 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000314525 SCV000380621 likely benign von Willebrand disorder 2016-06-14 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001356972 SCV001552280 uncertain significance not provided no assertion criteria provided clinical testing Allele frequency is common in at least one population database (frequency: 32.021% in gnomAD_Exomes) based on the frequency threshold of 0.5% for this gene. Variant was observed in a homozygous state in population databases more than expected for disease. A synonymous variant not located in a splice region.

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