Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000430645 | SCV000510865 | likely benign | not provided | 2017-01-04 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Gene |
RCV000487235 | SCV000569056 | benign | not specified | 2018-01-22 | 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 | RCV001081993 | SCV000772421 | benign | Methylmalonic acidemia with homocystinuria, type cblJ | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000430645 | SCV004136882 | likely benign | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | ABCD4: BS2 |