Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000248777 | SCV000314116 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000248777 | SCV000519434 | benign | not specified | 2015-12-29 | 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 | RCV001512199 | SCV001719569 | benign | Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000248777 | SCV001923579 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000248777 | SCV001959829 | benign | not specified | no assertion criteria provided | clinical testing |