Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000604381 | SCV000725724 | likely benign | not specified | 2017-12-21 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
ARUP Laboratories, |
RCV001811105 | SCV002049470 | likely benign | not provided | 2021-04-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002064220 | SCV002433109 | likely benign | Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E | 2024-01-06 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002064220 | SCV002795385 | likely benign | Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E | 2021-07-26 | criteria provided, single submitter | clinical testing |