ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.317-5C>T

gnomAD frequency: 0.00001  dbSNP: rs768082423
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000561773 SCV000671117 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-14 criteria provided, single submitter clinical testing The c.317-5C>T intronic variant results from a C to T substitution 5 nucleotides upstream from coding exon 3 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 RCV000613037 SCV000723158 likely benign not specified 2017-09-20 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 RCV000990246 SCV000767651 likely benign Colorectal cancer, susceptibility to, 10 2023-12-07 criteria provided, single submitter clinical testing
Mendelics RCV000990246 SCV001141129 likely benign Colorectal cancer, susceptibility to, 10 2019-05-28 criteria provided, single submitter clinical testing

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