ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.4150-6C>T

gnomAD frequency: 0.00004  dbSNP: rs756837862
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000232179 SCV000289368 likely benign Colorectal cancer, susceptibility to, 12 2021-12-15 criteria provided, single submitter clinical testing
GeneDx RCV000679631 SCV000723664 likely benign not provided 2019-03-06 criteria provided, single submitter clinical testing
Counsyl RCV000232179 SCV000786461 likely benign Colorectal cancer, susceptibility to, 12 2018-05-07 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679631 SCV000806773 likely benign not provided 2017-11-15 criteria provided, single submitter clinical testing
Mendelics RCV000232179 SCV001138870 likely benign Colorectal cancer, susceptibility to, 12 2019-05-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV001818626 SCV002070021 likely benign not specified 2020-01-09 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001818626 SCV002511736 benign not specified 2022-04-15 criteria provided, single submitter clinical testing
Sema4,Sema4 RCV002257580 SCV002536836 likely benign Hereditary cancer-predisposing syndrome 2020-11-18 criteria provided, single submitter curation

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