Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000821029 | SCV000961768 | likely benign | Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E | 2023-08-04 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000821029 | SCV002815432 | uncertain significance | Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E | 2021-11-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002537488 | SCV003741934 | uncertain significance | Inborn genetic diseases | 2022-10-12 | criteria provided, single submitter | clinical testing | The c.1067C>T (p.A356V) alteration is located in exon 8 (coding exon 7) of the INF2 gene. This alteration results from a C to T substitution at nucleotide position 1067, causing the alanine (A) at amino acid position 356 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |