ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.778A>G (p.Ile260Val)

gnomAD frequency: 0.00239  dbSNP: rs8105725
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001084127 SCV000262369 benign Colorectal cancer, susceptibility to, 10 2021-12-18 criteria provided, single submitter clinical testing
GeneDx RCV000759964 SCV000279380 likely benign not provided 2021-03-12 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000213915 SCV000601954 likely benign not specified 2016-10-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000568363 SCV000670912 benign Hereditary cancer-predisposing syndrome 2015-06-05 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759964 SCV000889690 benign not provided 2017-11-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000759964 SCV002047914 benign not provided 2021-05-22 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000213915 SCV002068326 benign not specified 2019-01-18 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000213915 SCV002500091 likely benign not specified 2022-03-04 criteria provided, single submitter clinical testing
Sema4,Sema4 RCV000568363 SCV002534703 benign Hereditary cancer-predisposing syndrome 2020-03-01 criteria provided, single submitter curation
True Health Diagnostics RCV000568363 SCV000788151 likely benign Hereditary cancer-predisposing syndrome 2017-10-10 no assertion criteria provided clinical testing

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