ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.2238C>T (p.Ser746=)

gnomAD frequency: 0.00001  dbSNP: rs1348543193
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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 RCV000532547 SCV000646540 likely benign Colorectal cancer, susceptibility to, 10 2025-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV003302858 SCV003996229 likely benign Hereditary cancer-predisposing syndrome 2023-03-18 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.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV004596248 SCV005089735 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing

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