Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001300966 | SCV001490119 | likely benign | Charcot-Marie-Tooth disease type 4 | 2023-04-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002409010 | SCV002714094 | uncertain significance | Inborn genetic diseases | 2022-03-20 | criteria provided, single submitter | clinical testing | The p.R605C variant (also known as c.1813C>T), located in coding exon 11 of the SH3TC2 gene, results from a C to T substitution at nucleotide position 1813. The arginine at codon 605 is replaced by cysteine, an amino acid with highly 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. |
Genesis Genome Database | RCV000857150 | SCV000999731 | uncertain significance | Charcot-Marie-Tooth disease | 2019-08-14 | no assertion criteria provided | research |