ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.1138-3C>A

dbSNP: rs200072694
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001009981 SCV001170116 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-27 criteria provided, single submitter clinical testing The c.1138-3C>A intronic variant results from a C to A substitution 3 nucleotides upstream from coding exon 9 in the POLD1 gene. This nucleotide position is well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to weaken the efficiency of the native splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001230786 SCV001403282 likely benign Colorectal cancer, susceptibility to, 10 2023-12-20 criteria provided, single submitter clinical testing

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