Submissions for variant NM_002691.4(POLD1):c.102C>T (p.Phe34=)

gnomAD frequency: 0.00010  dbSNP: rs754716741

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001704352	SCV000528569	likely benign	not provided	2020-11-09	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25303977)
Invitae	RCV000555450	SCV000646450	likely benign	Colorectal cancer, susceptibility to, 10	2024-01-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000564338	SCV000671123	likely benign	Hereditary cancer-predisposing syndrome	2017-03-07	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001844161	SCV002103674	likely benign	not specified	2022-02-24	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000564338	SCV002529037	benign	Hereditary cancer-predisposing syndrome	2021-01-31	criteria provided, single submitter	curation
PreventionGenetics, part of Exact Sciences	RCV003897901	SCV004711527	likely benign	POLD1-related condition	2022-05-06	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).