Submissions for variant NM_002691.4(POLD1):c.3218+10A>G

gnomAD frequency: 0.11362  dbSNP: rs2463239

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000412353	SCV000489139	likely benign	Colorectal cancer, susceptibility to, 10	2016-08-23	criteria provided, single submitter	clinical testing
GeneDx	RCV000444778	SCV000518040	benign	not specified	2015-11-10	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000586956	SCV000698005	benign	not provided	2016-05-19	criteria provided, single submitter	clinical testing	Variant summary: The POLD1 c.3218+10A>G variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. This variant was found in 3172/55760 control chromosomes (370 homozygotes) at a frequency of 0.0568867, which is approximately 4005 times the estimated maximal expected allele frequency of a pathogenic POLD1 variant (0.0000142), suggesting this variant is likely a benign polymorphism. Taken together, this variant is classified as benign.
PreventionGenetics, part of Exact Sciences	RCV000444778	SCV000806528	benign	not specified	2016-11-02	criteria provided, single submitter	clinical testing
Invitae	RCV000412353	SCV001719070	benign	Colorectal cancer, susceptibility to, 10	2024-02-01	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000444778	SCV002551991	benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002446632	SCV002612197	benign	Hereditary cancer-predisposing syndrome	2015-05-21	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000412353	SCV004016615	benign	Colorectal cancer, susceptibility to, 10	2023-07-07	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000444778	SCV002034704	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000444778	SCV002036067	benign	not specified		no assertion criteria provided	clinical testing