ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.-5G>C

dbSNP: rs1555786763
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000561840 SCV000671200 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-15 criteria provided, single submitter clinical testing The c.-5G>C variant is located in the 5' untranslated region (5’ UTR) of the POLD1 gene. This variant results from a G to C substitution 5 bases upstream from the first translated codon. This nucleotide position is well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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