ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.5379-5T>C

gnomAD frequency: 0.00001  dbSNP: rs761910924
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409614 SCV000489509 likely benign Colorectal cancer, susceptibility to, 12 2016-10-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000567417 SCV000674372 uncertain significance Hereditary cancer-predisposing syndrome 2017-01-17 criteria provided, single submitter clinical testing The c.5379-5T>C intronic variant results from a T to C substitution 5 nucleotides upstream from coding exon 40 in the POLE gene. This nucleotide position is well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003654259 SCV000949404 likely benign not provided 2024-12-18 criteria provided, single submitter clinical testing

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