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 uncertain significance Hereditary cancer-predisposing syndrome 2021-01-05 criteria provided, single submitter clinical testing The c.2007-5C>T intronic variant results from a C to T substitution 5 nucleotides upstream from coding exon 16 in the POLD1 gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
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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