Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000603538 | SCV000730149 | likely benign | not specified | 2017-03-01 | 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 | RCV002311960 | SCV000846126 | uncertain significance | Inborn genetic diseases | 2017-03-21 | criteria provided, single submitter | clinical testing | The c.1486+4G>C intronic variant results from a G to C substitution 4 nucleotides after coding exon 15 in the TCF4 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 donor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV000936285 | SCV001082050 | benign | Pitt-Hopkins syndrome | 2022-11-14 | criteria provided, single submitter | clinical testing |