ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.1338C>A (p.Thr446=)

dbSNP: rs1057521359
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001720140 SCV000522392 likely benign not provided 2021-01-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000877591 SCV001020343 likely benign Colorectal cancer, susceptibility to, 10 2024-12-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV001011111 SCV001171394 likely benign Hereditary cancer-predisposing syndrome 2018-07-26 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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000877591 SCV005881057 benign Colorectal cancer, susceptibility to, 10 2025-02-01 criteria provided, single submitter clinical testing

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