Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000726306 | SCV000242927 | likely benign | not provided | 2019-07-31 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 27875746) |
Eurofins Ntd Llc |
RCV000726306 | SCV000343608 | uncertain significance | not provided | 2016-08-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000636407 | SCV000757846 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002317158 | SCV000850676 | uncertain significance | Inborn genetic diseases | 2017-05-25 | criteria provided, single submitter | clinical testing | The p.R1960Q variant (also known as c.5879G>A), located in coding exon 26 of the SCN8A gene, results from a G to A substitution at nucleotide position 5879. The arginine at codon 1960 is replaced by glutamine, an amino acid with highly similar properties. 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. |
Centre for Mendelian Genomics, |
RCV001197747 | SCV001368526 | benign | Developmental and epileptic encephalopathy, 13 | 2019-03-08 | criteria provided, single submitter | clinical testing | This variant was classified as: Benign. The following ACMG criteria were applied in classifying this variant: BS1,BS2. |
Ce |
RCV000726306 | SCV001748363 | uncertain significance | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | SCN8A: PP2 |
Revvity Omics, |
RCV000726306 | SCV003826953 | uncertain significance | not provided | 2022-07-27 | criteria provided, single submitter | clinical testing |