ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.773C>T (p.Thr258Met)

gnomAD frequency: 0.00176  dbSNP: rs76131127
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000990251 SCV000262401 benign Colorectal cancer, susceptibility to, 10 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000679526 SCV000520578 likely benign not provided 2020-10-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004529008 SCV000806556 benign POLD1-related disorder 2019-03-15 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000431487 SCV000889689 benign not specified 2018-04-24 criteria provided, single submitter clinical testing
Mendelics RCV000990251 SCV001141136 likely benign Colorectal cancer, susceptibility to, 10 2019-05-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000679526 SCV001157282 likely benign not provided 2019-08-30 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257513 SCV002534702 benign Hereditary cancer-predisposing syndrome 2020-11-25 criteria provided, single submitter curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000990251 SCV004016645 benign Colorectal cancer, susceptibility to, 10 2023-07-07 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000431487 SCV004026991 uncertain significance not specified 2023-08-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000431487 SCV004029433 likely benign not specified 2023-07-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000679526 SCV004140553 benign not provided 2022-04-01 criteria provided, single submitter clinical testing POLD1: BS1, BS2

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