ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.2950C>T (p.Leu984=)

gnomAD frequency: 0.00001  dbSNP: rs754793514
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000460171 SCV000558755 likely benign Colorectal cancer, susceptibility to, 10 2024-01-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000571458 SCV000670904 likely benign Hereditary cancer-predisposing syndrome 2015-08-07 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.
GeneDx RCV001557648 SCV001779443 uncertain significance not provided 2023-07-25 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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