Submissions for variant NM_002691.4(POLD1):c.957C>T (p.Cys319=)

gnomAD frequency: 0.00004  dbSNP: rs377300843

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000759973	SCV000534583	likely benign	not provided	2021-10-27	criteria provided, single submitter	clinical testing
Invitae	RCV001083760	SCV000558749	likely benign	Colorectal cancer, susceptibility to, 10	2024-01-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000564007	SCV000671066	likely benign	Hereditary cancer-predisposing syndrome	2015-08-12	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	RCV000759973	SCV000889702	benign	not provided	2017-12-26	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001083760	SCV004016640	likely benign	Colorectal cancer, susceptibility to, 10	2023-07-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003932685	SCV004756754	likely benign	POLD1-related condition	2019-10-25	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).