ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.3582+17A>G (rs5744889)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000442172 SCV000517994 benign not specified 2015-10-30 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.
Integrated Genetics/Laboratory Corporation of America RCV000586592 SCV000698672 benign not provided 2016-05-19 criteria provided, single submitter clinical testing Variant summary: The POLE c.3582+17A>G variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. This variant was found in 117844/121342 control chromosomes (57239 homozygotes) at a frequency of 0.9711724, which is approximately 68370 times the estimated maximal expected allele frequency of a pathogenic POLE variant (0.0000142), indicating this variant is the common allele and a benign polymorphism. Taken together, this variant is classified as benign.
PreventionGenetics,PreventionGenetics RCV000442172 SCV000806762 benign not specified 2016-10-03 criteria provided, single submitter clinical testing

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