Submissions for variant NM_006231.4(POLE):c.1360-6C>T

gnomAD frequency: 0.00101  dbSNP: rs139836643

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000679598	SCV000289252	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000679598	SCV000521621	likely benign	not provided	2021-06-21	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000679598	SCV000806719	likely benign	not provided	2016-11-02	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000679598	SCV000889705	benign	not provided	2022-10-21	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002257578	SCV002536750	benign	Hereditary cancer-predisposing syndrome	2020-08-06	criteria provided, single submitter	curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV002267999	SCV002550182	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001081215	SCV004016710	benign	Colorectal cancer, susceptibility to, 12	2023-07-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000679598	SCV005330305	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	POLE: BP4, BS1
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000679598	SCV001978277	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000679598	SCV001979364	likely benign	not provided		no assertion criteria provided	clinical testing