ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.1359+9G>A (rs75135381)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000204657 SCV000489226 benign Colorectal cancer, susceptibility to, 12 2016-09-06 criteria provided, single submitter clinical testing
GeneDx RCV000430978 SCV000518047 likely benign not specified 2017-12-11 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 RCV000587865 SCV000698661 benign not provided 2017-05-23 criteria provided, single submitter clinical testing Variant summary: The POLE c.1359+9G>A variant involves the alteration of a non-conserved intronic nucleotide. Mutation taster predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. This variant was found in 174/120428 control chromosomes (2 homozygotes) from ExAC at a frequency of 0.0014448, which is approximately 102 times the estimated maximal expected allele frequency of a pathogenic POLE variant (0.0000142), strongly suggesting this variant is likely a benign polymorphism. It is primarily found in African subpopulation with an allele frequency of 0.015 (161/10296 chromosomes). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign/likely benign. Taken together, this variant is classified as benign.
Invitae RCV000204657 SCV000262354 benign Colorectal cancer, susceptibility to, 12 2018-01-08 criteria provided, single submitter clinical testing
PreventionGenetics RCV000430978 SCV000806718 benign not specified 2017-07-28 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000430978 SCV000601977 likely benign not specified 2017-02-11 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000587865 SCV000888496 benign not provided 2018-02-24 criteria provided, single submitter clinical testing

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