ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.3156G>A (p.Ser1052=)

gnomAD frequency: 0.00008  dbSNP: rs373910727
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001081709 SCV000287614 likely benign Colorectal cancer, susceptibility to, 10 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000568829 SCV000670958 likely benign Hereditary cancer-predisposing syndrome 2015-07-12 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.
GeneDx RCV000827452 SCV000969101 likely benign not provided 2021-10-04 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000827452 SCV001134651 benign not provided 2019-01-09 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002229343 SCV002511648 likely benign not specified 2022-04-19 criteria provided, single submitter clinical testing

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