Submissions for variant NM_002691.4(POLD1):c.971-4G>A

gnomAD frequency: 0.00152  dbSNP: rs200144991

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001081744	SCV000287660	benign	Colorectal cancer, susceptibility to, 10	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000433707	SCV000520741	likely benign	not specified	2017-12-26	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.
Genetic Services Laboratory, University of Chicago	RCV000433707	SCV000596492	likely benign	not specified	2016-10-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000572949	SCV000670956	likely benign	Hereditary cancer-predisposing syndrome	2018-07-24	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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	RCV000433707	SCV000806573	benign	not specified	2017-11-02	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV003477816	SCV000888481	benign	not provided	2022-10-17	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000433707	SCV002511647	benign	not specified	2022-04-19	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000572949	SCV002534718	benign	Hereditary cancer-predisposing syndrome	2020-12-07	criteria provided, single submitter	curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001081744	SCV004016669	benign	Colorectal cancer, susceptibility to, 10	2023-07-07	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000433707	SCV004026996	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing