Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000731319 | SCV000859120 | uncertain significance | not provided | 2018-01-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002334410 | SCV002635241 | uncertain significance | Inborn genetic diseases | 2022-03-01 | criteria provided, single submitter | clinical testing | The p.L1544S variant (also known as c.4631T>C), located in coding exon 8 of the SETX gene, results from a T to C substitution at nucleotide position 4631. The leucine at codon 1544 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is conserved. 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. |
Genome- |
RCV003233845 | SCV003931368 | uncertain significance | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2023-02-08 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003233846 | SCV003931369 | uncertain significance | Amyotrophic lateral sclerosis type 4 | 2023-02-08 | criteria provided, single submitter | clinical testing |