ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.1452G>A (p.Glu484=)

dbSNP: rs1191052495
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001422537 SCV001625090 likely benign Colorectal cancer, susceptibility to, 10 2024-11-20 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003321839 SCV004026999 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV004038203 SCV005019807 likely benign Hereditary cancer-predisposing syndrome 2023-11-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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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