ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.525C>T (p.Asp175=)

gnomAD frequency: 0.00001  dbSNP: rs775285603
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759243 SCV000888468 uncertain significance not provided 2017-11-18 criteria provided, single submitter clinical testing
Invitae RCV001504954 SCV001709842 likely benign Colorectal cancer, susceptibility to, 10 2024-01-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002334422 SCV002643832 likely benign Hereditary cancer-predisposing syndrome 2019-03-06 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.

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