Submissions for variant NM_002691.4(POLD1):c.1620C>T (p.Gly540=)

gnomAD frequency: 0.00098  dbSNP: rs140216790

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000990257	SCV000261815	benign	Colorectal cancer, susceptibility to, 10	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000759939	SCV000518898	likely benign	not provided	2021-09-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000575776	SCV000670905	likely benign	Hereditary cancer-predisposing syndrome	2015-06-04	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
PreventionGenetics, part of Exact Sciences	RCV000436739	SCV000806470	benign	not specified	2017-02-24	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000759939	SCV000889654	benign	not provided	2017-08-04	criteria provided, single submitter	clinical testing
Mendelics	RCV000990257	SCV001141145	likely benign	Colorectal cancer, susceptibility to, 10	2019-05-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000759939	SCV001152027	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	POLD1: BP4, BP7, BS1
Sema4, Sema4	RCV000575776	SCV002534598	benign	Hereditary cancer-predisposing syndrome	2020-08-17	criteria provided, single submitter	curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000436739	SCV002551920	likely benign	not specified	2025-03-04	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000990257	SCV004016641	benign	Colorectal cancer, susceptibility to, 10	2023-07-07	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000436739	SCV004029438	benign	not specified	2023-07-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000759939	SCV004562176	benign	not provided	2023-10-23	criteria provided, single submitter	clinical testing
True Health Diagnostics	RCV000575776	SCV000788131	likely benign	Hereditary cancer-predisposing syndrome	2017-10-25	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000759939	SCV001741941	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000759939	SCV001807576	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000759939	SCV001922876	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000759939	SCV001953613	likely benign	not provided		no assertion criteria provided	clinical testing