Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001066305 | SCV001231312 | likely benign | Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E | 2023-10-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003259078 | SCV003972792 | uncertain significance | Inborn genetic diseases | 2023-04-07 | criteria provided, single submitter | clinical testing | The c.3598G>A (p.D1200N) alteration is located in exon 21 (coding exon 20) of the INF2 gene. This alteration results from a G to A substitution at nucleotide position 3598, causing the aspartic acid (D) at amino acid position 1200 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |