Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001842543 | SCV001339461 | likely benign | Cardiac arrhythmia | 2019-03-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001450159 | SCV001653759 | likely benign | Long QT syndrome | 2022-08-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003169176 | SCV003855706 | uncertain significance | Cardiovascular phenotype | 2023-01-09 | criteria provided, single submitter | clinical testing | The c.684-4G>A intronic variant results from a G to A substitution 4 nucleotides upstream from coding exon 5 in the KCNQ1 gene. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will result in the creation or strengthening of a novel splice acceptor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |