Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000566996 | SCV000671101 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-06-29 | criteria provided, single submitter | clinical testing | The c.-1G>A variant is located in the 5' untranslated region (5’ UTR) of the POLD1 gene. This variant results from a G to A substitution one nucleotide 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. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000759224 | SCV000888445 | uncertain significance | not provided | 2018-05-22 | criteria provided, single submitter | clinical testing |