Submissions for variant NM_002691.4(POLD1):c.2787C>T (p.Ala929=)

gnomAD frequency: 0.00001  dbSNP: rs1057522848

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000679504	SCV000529724	likely benign	not provided	2020-05-18	criteria provided, single submitter	clinical testing
Invitae	RCV001087575	SCV000646603	likely benign	Colorectal cancer, susceptibility to, 10	2024-01-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000571738	SCV000671156	likely benign	Hereditary cancer-predisposing syndrome	2017-07-14	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.
PreventionGenetics, part of Exact Sciences	RCV000679504	SCV000806513	likely benign	not provided	2017-01-10	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001821194	SCV002068285	likely benign	not specified	2018-01-16	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV001821194	SCV002551976	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000679504	SCV004183693	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	POLD1: BP4, BP7