ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.2006+17G>A

gnomAD frequency: 0.00182  dbSNP: rs55655121
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000440039 SCV000518901 likely benign not specified 2017-07-05 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 RCV002062341 SCV002402024 benign Colorectal cancer, susceptibility to, 10 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004017613 SCV004849218 uncertain significance Hereditary cancer-predisposing syndrome 2015-06-04 criteria provided, single submitter clinical testing The c.2006+17G>A intronic alteration consists of a G to A substitution 7 nucleotides after coding exon 15 in the POLD1 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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