Submissions for variant NM_002691.4(POLD1):c.645G>A (p.Ala215=)

gnomAD frequency: 0.00011  dbSNP: rs377058651

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000229419	SCV000287644	likely benign	Colorectal cancer, susceptibility to, 10	2024-01-30	criteria provided, single submitter	clinical testing
GeneDx	RCV001531909	SCV000530825	likely benign	not provided	2021-08-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000574123	SCV000671085	likely benign	Hereditary cancer-predisposing syndrome	2016-02-17	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.
CeGaT Center for Human Genetics Tuebingen	RCV001531909	SCV001747239	likely benign	not provided	2021-05-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001824699	SCV002074322	benign	not specified	2022-01-01	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000574123	SCV002534695	benign	Hereditary cancer-predisposing syndrome	2020-11-28	criteria provided, single submitter	curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000229419	SCV004016649	likely benign	Colorectal cancer, susceptibility to, 10	2023-07-07	criteria provided, single submitter	clinical testing