ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.3219-8A>C

gnomAD frequency: 0.00001  dbSNP: rs1420038281
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985933 SCV001134652 uncertain significance not provided 2019-03-12 criteria provided, single submitter clinical testing
Invitae RCV001061255 SCV001225991 uncertain significance Colorectal cancer, susceptibility to, 10 2019-12-22 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals with POLD1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 26 of the POLD1 gene. It does not directly change the encoded amino acid sequence of the POLD1 protein.

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