Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001721203 | SCV000241562 | likely benign | not provided | 2019-04-30 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000187959 | SCV000613883 | uncertain significance | not specified | 2017-07-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002314725 | SCV000849137 | uncertain significance | Inborn genetic diseases | 2017-02-28 | criteria provided, single submitter | clinical testing | The p.R831W variant (also known as c.2491C>T), located in coding exon 15 of the KCNQ3 gene, results from a C to T substitution at nucleotide position 2491. The arginine at codon 831 is replaced by tryptophan, an amino acid with dissimilar properties. This variant did not co-segregate with disease in three individuals tested in our laboratory. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Labcorp Genetics |
RCV000861903 | SCV001002318 | likely benign | Benign neonatal seizures | 2024-10-23 | criteria provided, single submitter | clinical testing |