ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.651G>A (p.Pro217=)

gnomAD frequency: 0.00006  dbSNP: rs199622672
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001080245 SCV000287646 benign Colorectal cancer, susceptibility to, 10 2024-01-21 criteria provided, single submitter clinical testing
GeneDx RCV000759247 SCV000521656 likely benign not provided 2020-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000567467 SCV000671038 likely benign Hereditary cancer-predisposing syndrome 2015-07-08 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 RCV000759247 SCV000888474 benign not provided 2017-11-02 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000567467 SCV002534696 benign Hereditary cancer-predisposing syndrome 2021-04-12 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002465587 SCV002761048 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003937897 SCV004753646 likely benign POLD1-related condition 2019-04-16 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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