ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.1716G>T (p.Val572=)

dbSNP: rs1568628387
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001500066 SCV001704844 likely benign Colorectal cancer, susceptibility to, 10 2022-10-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000758170 SCV002715963 likely benign Hereditary cancer-predisposing syndrome 2022-03-04 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.
True Health Diagnostics RCV000758170 SCV000886703 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-10 no assertion criteria provided clinical testing

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