Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000819052 | SCV000959694 | likely benign | Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002325612 | SCV002610628 | uncertain significance | Inborn genetic diseases | 2020-02-24 | criteria provided, single submitter | clinical testing | The p.V1053M variant (also known as c.3157G>A), located in coding exon 20 of the INF2 gene, results from a G to A substitution at nucleotide position 3157. The valine at codon 1053 is replaced by methionine, an amino acid with highly 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. |
Ce |
RCV003396438 | SCV004135294 | likely benign | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | INF2: BP4 |