Submissions for variant NM_002691.4(POLD1):c.885G>C (p.Val295=)

gnomAD frequency: 0.00024  dbSNP: rs201946114

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001081861	SCV000287656	likely benign	Colorectal cancer, susceptibility to, 10	2024-01-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000759970	SCV000523614	likely benign	not provided	2021-02-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000573633	SCV000670896	likely benign	Hereditary cancer-predisposing syndrome	2015-09-08	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.
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000427126	SCV000889698	benign	not specified	2018-05-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000759970	SCV001152019	likely benign	not provided	2019-05-01	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000427126	SCV002066329	likely benign	not specified	2018-02-26	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000573633	SCV002534710	likely benign	Hereditary cancer-predisposing syndrome	2020-12-29	criteria provided, single submitter	curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000427126	SCV002551893	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing