ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.6658-7C>A (rs531482240)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000203683 SCV000784817 likely benign Colorectal cancer, susceptibility to, 12 2016-12-15 criteria provided, single submitter clinical testing
GeneDx RCV000657141 SCV000570900 uncertain significance not provided 2018-06-26 criteria provided, single submitter clinical testing This variant is denoted POLE c.6658-7C>A or IVS47-7C>A and consists of a C>A nucleotide substitution at the -7 position of intron 47 of the POLE gene. In-silico analyses, which include splice predictors and evolutionary conservation, are inconsistent in their assessment as to whether or not the variant is damaging. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. POLE c.6658-7C>A was observed at an allele frequency of 0.01% (17/125,530) in individuals of European ancestry in large population cohorts (Lek 2016). Based on currently available evidence, it is unclear whether POLE c.6658-7C>A is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
GenomeConnect, ClinGen RCV000657141 SCV000840297 not provided not provided no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Invitae RCV000203683 SCV000261970 likely benign Colorectal cancer, susceptibility to, 12 2018-01-02 criteria provided, single submitter clinical testing
PreventionGenetics RCV000657141 SCV000806846 likely benign not provided 2017-12-13 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000480223 SCV000602086 likely benign not specified 2017-03-29 criteria provided, single submitter clinical testing

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