Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000241561 | SCV000314092 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000241561 | SCV000531344 | likely benign | not specified | 2017-03-03 | 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. |
Invitae | RCV001519267 | SCV001728106 | benign | Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E | 2023-12-31 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001519267 | SCV002806012 | likely benign | Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E | 2021-09-23 | criteria provided, single submitter | clinical testing |