ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.1323G>A (p.Thr441=)

dbSNP: rs768901366
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000574424 SCV000670985 likely benign Hereditary cancer-predisposing syndrome 2016-04-26 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000645948 SCV000767703 likely benign Colorectal cancer, susceptibility to, 10 2025-01-30 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003321678 SCV004026997 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing

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