Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001040856 | SCV001204447 | likely benign | Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E | 2022-11-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003363058 | SCV004064937 | uncertain significance | Inborn genetic diseases | 2023-09-05 | criteria provided, single submitter | clinical testing | The c.2185G>A (p.A729T) alteration is located in exon 13 (coding exon 12) of the INF2 gene. This alteration results from a G to A substitution at nucleotide position 2185, causing the alanine (A) at amino acid position 729 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |