ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.1776-4C>T

dbSNP: rs1568630035
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759218 SCV000888437 uncertain significance not provided 2018-08-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002397528 SCV002714827 uncertain significance Hereditary cancer-predisposing syndrome 2019-12-20 criteria provided, single submitter clinical testing The c.1776-4C>T intronic variant results from a C to T substitution 4 nucleotides upstream from coding exon 14 in the POLD1 gene. This nucleotide position is not 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 RCV003525961 SCV004322247 likely benign Colorectal cancer, susceptibility to, 10 2024-07-01 criteria provided, single submitter clinical testing

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