ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.1893C>G (p.Gly631=)

dbSNP: rs774216194
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697904 SCV000723719 likely benign not provided 2020-11-24 criteria provided, single submitter clinical testing
Invitae RCV000800733 SCV000940463 likely benign Colorectal cancer, susceptibility to, 10 2023-12-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002413731 SCV002722515 likely benign Hereditary cancer-predisposing syndrome 2015-09-14 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.
CeGaT Center for Human Genetics Tuebingen RCV001697904 SCV003918171 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing POLD1: BP4, BP7

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