ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.2826G>A (p.Pro942=)

gnomAD frequency: 0.00001  dbSNP: rs878854543
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000228221 SCV000287595 likely benign Colorectal cancer, susceptibility to, 10 2023-12-25 criteria provided, single submitter clinical testing
GeneDx RCV001722233 SCV000524736 likely benign not provided 2019-03-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000569798 SCV000671084 likely benign Hereditary cancer-predisposing syndrome 2015-11-11 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.

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