Submissions for variant NM_002691.4(POLD1):c.2958G>C (p.Gly986=)

gnomAD frequency: 0.00001  dbSNP: rs878854547

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001257063	SCV000287604	likely benign	Colorectal cancer, susceptibility to, 10	2024-01-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000418113	SCV000521727	likely benign	not specified	2018-02-09	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.
Ambry Genetics	RCV000561686	SCV000670974	likely benign	Hereditary cancer-predisposing syndrome	2015-10-23	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.
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000759237	SCV000888461	likely benign	not provided	2019-03-29	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000561686	SCV002534654	likely benign	Hereditary cancer-predisposing syndrome	2020-12-31	criteria provided, single submitter	curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001257063	SCV004016656	likely benign	Colorectal cancer, susceptibility to, 10	2023-07-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003955332	SCV004784498	likely benign	POLD1-related condition	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).