ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.2565-17G>A

gnomAD frequency: 0.00078  dbSNP: rs200576676
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410659 SCV000489441 likely benign Colorectal cancer, susceptibility to, 10 2016-10-04 criteria provided, single submitter clinical testing
GeneDx RCV000434439 SCV000521325 likely benign not specified 2017-07-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics, part of Exact Sciences RCV000679498 SCV000806505 likely benign not provided 2017-07-27 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV000679498 SCV002010409 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Invitae RCV000410659 SCV002422458 benign Colorectal cancer, susceptibility to, 10 2024-01-29 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000434439 SCV002551970 uncertain significance not specified 2024-02-06 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000410659 SCV004016661 likely benign Colorectal cancer, susceptibility to, 10 2023-07-07 criteria provided, single submitter clinical testing

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