Submissions for variant NM_002691.4(POLD1):c.2821-5C>T

gnomAD frequency: 0.00001  dbSNP: rs1057521374

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000431391	SCV000522467	likely benign	not specified	2015-12-21	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000473547	SCV000558780	likely benign	Colorectal cancer, susceptibility to, 10	2024-01-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000569150	SCV000670941	uncertain significance	Hereditary cancer-predisposing syndrome	2019-06-09	criteria provided, single submitter	clinical testing	The c.2821-5C>T intronic variant results from a C to T substitution 5 nucleotides upstream from coding exon 22 in the POLD1 gene. This nucleotide position is not well conserved on limited nucleotide alignment. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen	RCV002275028	SCV002563543	likely benign	not provided	2022-07-01	criteria provided, single submitter	clinical testing	POLD1: BP4
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000431391	SCV004027024	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing