Submissions for variant NM_006231.4(POLE):c.6675C>T (p.Arg2225=)

gnomAD frequency: 0.00125  dbSNP: rs149973644

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000679670	SCV000261717	benign	not provided	2025-02-04	criteria provided, single submitter	clinical testing
GeneDx	RCV000679670	SCV000520975	likely benign	not provided	2020-07-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000565304	SCV000671241	likely benign	Hereditary cancer-predisposing syndrome	2015-06-19	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences	RCV000679670	SCV000806847	likely benign	not provided	2017-05-09	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000425210	SCV000888570	benign	not specified	2017-06-09	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000679670	SCV001148866	likely benign	not provided	2025-02-01	criteria provided, single submitter	clinical testing	POLE: BP4, BP7
Genetic Services Laboratory, University of Chicago	RCV000425210	SCV002066433	likely benign	not specified	2021-11-22	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000565304	SCV002536925	benign	Hereditary cancer-predisposing syndrome	2020-09-16	criteria provided, single submitter	curation
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000425210	SCV002548401	benign	not specified	2022-05-05	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000425210	SCV002550018	likely benign	not specified	2025-03-04	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001080214	SCV004016720	benign	Colorectal cancer, susceptibility to, 12	2023-07-07	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000679670	SCV004562288	likely benign	not provided	2023-03-24	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000679670	SCV005217301	likely benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000679670	SCV001809631	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000425210	SCV001926063	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000679670	SCV001959861	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000679670	SCV001973086	likely benign	not provided		no assertion criteria provided	clinical testing