Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000143817 | SCV000780944 | uncertain significance | not provided | 2018-01-01 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000988269 | SCV001137924 | benign | Amyotrophic lateral sclerosis type 4 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001049421 | SCV001213470 | benign | Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2023-08-03 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000143817 | SCV001475483 | uncertain significance | not provided | 2020-02-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002326849 | SCV002631734 | uncertain significance | Inborn genetic diseases | 2022-05-12 | criteria provided, single submitter | clinical testing | The p.K1425E variant (also known as c.4273A>G), located in coding exon 8 of the SETX gene, results from an A to G substitution at nucleotide position 4273. The lysine at codon 1425 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is poorly 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. |
Northcott Neuroscience Laboratory, |
RCV000143817 | SCV000188710 | probable-non-pathogenic | not provided | no assertion criteria provided | not provided | Converted during submission to Likely benign. | |
Inherited Neuropathy Consortium | RCV000790205 | SCV000929597 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only | ||
Genome Diagnostics Laboratory, |
RCV000143817 | SCV001809356 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000143817 | SCV001964139 | likely benign | not provided | no assertion criteria provided | clinical testing |