Submissions for variant NM_002691.4(POLD1):c.1932C>T (p.Asp644=)

dbSNP: rs80214209

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000233085	SCV000287542	benign	Colorectal cancer, susceptibility to, 10	2024-01-30	criteria provided, single submitter	clinical testing
GeneDx	RCV001697259	SCV000530364	likely benign	not provided	2021-01-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000568535	SCV000670995	likely benign	Hereditary cancer-predisposing syndrome	2016-01-29	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.
Genetic Services Laboratory, University of Chicago	RCV001818599	SCV002068139	likely benign	not specified	2019-04-22	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003955330	SCV004772190	likely benign	POLD1-related condition	2019-12-13	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).