Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000700350 | SCV000829102 | likely benign | Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E | 2023-06-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001548362 | SCV001768258 | likely benign | not provided | 2021-04-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002319561 | SCV002608833 | uncertain significance | Inborn genetic diseases | 2022-07-08 | criteria provided, single submitter | clinical testing | The p.R1028C variant (also known as c.3082C>T), located in coding exon 20 of the INF2 gene, results from a C to T substitution at nucleotide position 3082. The arginine at codon 1028 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. |