Submissions for variant NM_002691.4(POLD1):c.1785C>T (p.Asp595=)

gnomAD frequency: 0.00011  dbSNP: rs769563176

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000759219	SCV000523807	likely benign	not provided	2019-06-21	criteria provided, single submitter	clinical testing
Invitae	RCV001086189	SCV000558706	likely benign	Colorectal cancer, susceptibility to, 10	2024-01-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000570285	SCV000670961	likely benign	Hereditary cancer-predisposing syndrome	2015-07-02	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	RCV000759219	SCV000888438	benign	not provided	2019-01-03	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000436014	SCV001623139	benign	not specified	2021-05-08	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000436014	SCV002551934	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002506038	SCV002806089	likely benign	Colorectal cancer, susceptibility to, 10; Mandibular hypoplasia-deafness-progeroid syndrome	2021-10-29	criteria provided, single submitter	clinical testing