Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000513859 | SCV000610468 | likely benign | not provided | 2017-08-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000607066 | SCV000713921 | likely benign | not specified | 2017-11-29 | 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 | RCV001518792 | SCV001727552 | benign | Methylmalonic aciduria, cblB type | 2024-02-01 | criteria provided, single submitter | clinical testing |