ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.2821-4G>A

gnomAD frequency: 0.00001  dbSNP: rs369042179
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000550348 SCV000646607 likely benign Colorectal cancer, susceptibility to, 10 2023-12-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000561513 SCV000671140 uncertain significance Hereditary cancer-predisposing syndrome 2020-02-28 criteria provided, single submitter clinical testing The c.2821-4G>A intronic variant results from a G to A substitution 4 nucleotides upstream from coding exon 22 in the POLD1 gene. This nucleotide position is not well conserved in available vertebrate species. 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.
Counsyl RCV000550348 SCV000786548 likely benign Colorectal cancer, susceptibility to, 10 2018-05-22 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002268153 SCV002551982 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing

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