ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.3291G>A (p.Arg1097=)

dbSNP: rs753235009
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001079660 SCV000646648 likely benign Colorectal cancer, susceptibility to, 10 2024-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000568952 SCV000670981 likely benign Hereditary cancer-predisposing syndrome 2016-06-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV000679516 SCV000806536 likely benign not provided 2017-10-10 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000679516 SCV001134656 likely benign not provided 2019-07-23 criteria provided, single submitter clinical testing

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