ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.3378+10A>G

gnomAD frequency: 0.00019  dbSNP: rs193075152
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003654235 SCV000289328 benign not provided 2025-01-30 criteria provided, single submitter clinical testing
Counsyl RCV000232584 SCV000489177 likely benign Colorectal cancer, susceptibility to, 12 2016-08-30 criteria provided, single submitter clinical testing
GeneDx RCV000418442 SCV000521627 likely benign not specified 2017-07-31 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000418442 SCV001469627 benign not specified 2020-03-24 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002258851 SCV002536810 benign Hereditary cancer-predisposing syndrome 2020-12-07 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000418442 SCV002550119 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000418442 SCV002819434 benign not specified 2022-12-11 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000232584 SCV004016714 benign Colorectal cancer, susceptibility to, 12 2023-07-07 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005365192 SCV005915779 likely benign Familial colorectal cancer type X; Polymerase proofreading-related adenomatous polyposis 2019-11-25 criteria provided, single submitter clinical testing

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