ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.2832C>T (p.Phe944=)

gnomAD frequency: 0.00001  dbSNP: rs143974331
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000759230 SCV000536033 likely benign not provided 2019-11-20 criteria provided, single submitter clinical testing
Invitae RCV001081230 SCV000558685 likely benign Colorectal cancer, susceptibility to, 10 2024-01-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000565186 SCV000671026 likely benign Hereditary cancer-predisposing syndrome 2015-06-24 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759230 SCV000888453 benign not provided 2018-05-17 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000565186 SCV002534653 likely benign Hereditary cancer-predisposing syndrome 2021-06-28 criteria provided, single submitter curation

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