Submissions for variant NM_006231.4(POLE):c.285+13C>A

gnomAD frequency: 0.00015  dbSNP: rs76960367

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000420600	SCV000528617	likely benign	not specified	2017-03-31	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001810934	SCV001471925	likely benign	not provided	2020-07-02	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001810934	SCV001722952	benign	not provided	2025-02-02	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002258892	SCV002536793	benign	Hereditary cancer-predisposing syndrome	2021-02-18	criteria provided, single submitter	curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000420600	SCV002550222	likely benign	not specified	2025-03-04	criteria provided, single submitter	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV005355763	SCV005915769	likely benign	POLE-related polyposis and colorectal cancer syndrome	2024-03-13	criteria provided, single submitter	clinical testing