Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001037619 | SCV001201043 | likely benign | Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E | 2023-08-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004031039 | SCV004887954 | uncertain significance | Inborn genetic diseases | 2023-09-27 | criteria provided, single submitter | clinical testing | The c.1405A>G (p.M469V) alteration is located in exon 8 (coding exon 7) of the INF2 gene. This alteration results from a A to G substitution at nucleotide position 1405, causing the methionine (M) at amino acid position 469 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |