Submissions for variant NM_002691.4(POLD1):c.1419G>A (p.Thr473=)

gnomAD frequency: 0.00001  dbSNP: rs763643495

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001088094	SCV000287517	likely benign	Colorectal cancer, susceptibility to, 10	2024-01-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000568055	SCV000671058	likely benign	Hereditary cancer-predisposing syndrome	2017-03-16	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.
GeneDx	RCV000226380	SCV000716300	likely benign	not provided	2020-01-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000226380	SCV001152024	likely benign	not provided	2018-07-01	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000226380	SCV004219060	benign	not provided	2023-01-16	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003919950	SCV004732783	likely benign	POLD1-related condition	2023-02-01	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).