Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002406158 | SCV002710876 | uncertain significance | Inborn genetic diseases | 2022-07-18 | criteria provided, single submitter | clinical testing | The p.R5640T variant (also known as c.16919G>C), located in coding exon 97 of the DST gene, results from a G to C substitution at nucleotide position 16919. The arginine at codon 5640 is replaced by threonine, an amino acid with 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. |
Invitae | RCV003774464 | SCV004573601 | likely benign | Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | 2023-08-08 | criteria provided, single submitter | clinical testing |