ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.2251-4G>A

gnomAD frequency: 0.00001  dbSNP: rs768364989
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000477274 SCV000558746 likely benign Colorectal cancer, susceptibility to, 10 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000561603 SCV000671080 uncertain significance Hereditary cancer-predisposing syndrome 2020-02-03 criteria provided, single submitter clinical testing The c.2251-4G>A intronic variant results from a G to A substitution 4 nucleotides upstream from coding exon 18 in the POLD1 gene. This nucleotide position is poorly 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.
GeneDx RCV000603918 SCV000722907 likely benign not provided 2019-08-20 criteria provided, single submitter clinical testing
Counsyl RCV000477274 SCV000786520 likely benign Colorectal cancer, susceptibility to, 10 2018-05-17 criteria provided, single submitter clinical testing

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