Submissions for variant NM_002691.4(POLD1):c.3204C>T (p.Asp1068=)

gnomAD frequency: 0.00004  dbSNP: rs759019419

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000679512	SCV000533986	likely benign	not provided	2021-03-15	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001082390	SCV000558796	benign	Colorectal cancer, susceptibility to, 10	2024-01-25	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000679512	SCV000601932	benign	not provided	2018-10-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000564139	SCV000670960	likely benign	Hereditary cancer-predisposing syndrome	2015-10-09	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	RCV000679512	SCV000806527	likely benign	not provided	2017-09-13	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000436470	SCV001748705	benign	not specified	2021-06-27	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000564139	SCV002534666	benign	Hereditary cancer-predisposing syndrome	2021-01-21	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV000679512	SCV004140570	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	POLD1: BP4, BP7