Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000235967 | SCV000293806 | likely benign | not specified | 2016-02-05 | 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 | RCV000885892 | SCV001029367 | likely benign | Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever | 2024-01-23 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003221881 | SCV003917239 | likely benign | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | MVK: BP4 |