Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000160825 | SCV000211498 | likely benign | not specified | 2014-08-18 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Ambry Genetics | RCV000561746 | SCV000665063 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-08-09 | criteria provided, single submitter | clinical testing | The c.-5G>T variant is located in the 5' untranslated region (5’ UTR) of the PALB2 gene. This variant results from a G to T substitution 5 bases upstream from the first translated codon. This nucleotide position is not well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Color Diagnostics, |
RCV000561746 | SCV000690756 | likely benign | Hereditary cancer-predisposing syndrome | 2017-10-08 | criteria provided, single submitter | clinical testing |