ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.438C>G (p.Pro146=)

gnomAD frequency: 0.00004  dbSNP: rs374926513
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001084641 SCV000558794 likely benign Colorectal cancer, susceptibility to, 10 2024-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000572247 SCV000671010 likely benign Hereditary cancer-predisposing syndrome 2015-07-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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 RCV000679517 SCV000722459 likely benign not provided 2019-09-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000679517 SCV000806541 likely benign not provided 2016-11-02 criteria provided, single submitter clinical testing

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