Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000706310 | SCV000835352 | likely benign | Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E | 2023-08-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002440545 | SCV002749787 | uncertain significance | Inborn genetic diseases | 2020-02-25 | criteria provided, single submitter | clinical testing | The p.A935V variant (also known as c.2804C>T), located in coding exon 18 of the INF2 gene, results from a C to T substitution at nucleotide position 2804. The alanine at codon 935 is replaced by valine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and valine is the reference amino acid in other 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. |
Fulgent Genetics, |
RCV000706310 | SCV002786698 | uncertain significance | Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E | 2022-03-16 | criteria provided, single submitter | clinical testing |