Submissions for variant NM_002691.4(POLD1):c.773C>T (p.Thr258Met)

gnomAD frequency: 0.00176  dbSNP: rs76131127

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000990251	SCV000262401	benign	Colorectal cancer, susceptibility to, 10	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000679526	SCV000520578	likely benign	not provided	2020-10-06	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000431487	SCV000889689	benign	not specified	2018-04-24	criteria provided, single submitter	clinical testing
Mendelics	RCV000990251	SCV001141136	likely benign	Colorectal cancer, susceptibility to, 10	2019-05-28	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000679526	SCV001157282	likely benign	not provided	2019-08-30	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002257513	SCV002534702	benign	Hereditary cancer-predisposing syndrome	2020-11-25	criteria provided, single submitter	curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000990251	SCV004016645	benign	Colorectal cancer, susceptibility to, 10	2023-07-07	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000431487	SCV004026991	uncertain significance	not specified	2023-08-15	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000431487	SCV004029433	likely benign	not specified	2023-07-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000679526	SCV004140553	benign	not provided	2022-04-01	criteria provided, single submitter	clinical testing	POLD1: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000679526	SCV005205882	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV004529008	SCV000806556	benign	POLD1-related disorder	2019-03-15	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).