Submissions for variant NM_002691.4(POLD1):c.3072C>T (p.Ala1024=)

gnomAD frequency: 0.00010  dbSNP: rs111698572

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000228179	SCV000287612	likely benign	Colorectal cancer, susceptibility to, 10	2024-01-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000564952	SCV000671049	likely benign	Hereditary cancer-predisposing syndrome	2015-11-19	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	RCV001722234	SCV000715619	likely benign	not provided	2020-11-24	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000601019	SCV001470058	benign	not specified	2020-02-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001722234	SCV004140569	likely benign	not provided	2022-08-01	criteria provided, single submitter	clinical testing	POLD1: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003929958	SCV004740013	likely benign	POLD1-related condition	2019-09-28	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).