Submissions for variant NM_002691.4(POLD1):c.1494+5C>T

dbSNP: rs565428379

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000227045	SCV000287520	benign	Colorectal cancer, susceptibility to, 10	2024-01-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000759934	SCV000521725	likely benign	not provided	2021-05-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000572062	SCV000670973	likely benign	Hereditary cancer-predisposing syndrome	2018-11-14	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.
Counsyl	RCV000227045	SCV000785759	likely benign	Colorectal cancer, susceptibility to, 10	2017-11-24	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000759934	SCV000889647	benign	not provided	2019-03-29	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000572062	SCV002534584	benign	Hereditary cancer-predisposing syndrome	2020-12-31	criteria provided, single submitter	curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000227045	SCV004016655	benign	Colorectal cancer, susceptibility to, 10	2023-07-07	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000227045	SCV004018525	uncertain significance	Colorectal cancer, susceptibility to, 10	2023-04-19	criteria provided, single submitter	clinical testing	This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV003493538	SCV004242983	likely benign	not specified	2024-02-06	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004541393	SCV004780529	likely benign	POLD1-related disorder	2019-02-18	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).