ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.2007-5C>T

gnomAD frequency: 0.00019  dbSNP: rs199506387
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227029 SCV000287546 likely benign Colorectal cancer, susceptibility to, 10 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000679486 SCV000520796 likely benign not provided 2021-02-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000572171 SCV000670927 likely benign Hereditary cancer-predisposing syndrome 2024-03-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
PreventionGenetics, part of Exact Sciences RCV000679486 SCV000806484 likely benign not provided 2018-01-11 criteria provided, single submitter clinical testing
Mendelics RCV000227029 SCV001141149 likely benign Colorectal cancer, susceptibility to, 10 2019-05-28 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000572171 SCV002534616 benign Hereditary cancer-predisposing syndrome 2021-04-16 criteria provided, single submitter curation
CeGaT Center for Human Genetics Tuebingen RCV000679486 SCV004011094 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing POLD1: BP4
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003493539 SCV004242995 likely benign not specified 2024-02-06 criteria provided, single submitter clinical testing
Molecular Oncology Laboratory, Hospital Clínico San Carlos RCV000227029 SCV000844937 benign Colorectal cancer, susceptibility to, 10 2018-06-01 no assertion criteria provided clinical testing

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