Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000429464 | SCV000518651 | benign | not specified | 2016-02-23 | 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 | RCV001518948 | SCV001727729 | benign | Methylmalonic acidemia with homocystinuria, type cblJ | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000429464 | SCV002050963 | likely benign | not specified | 2021-12-10 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001518948 | SCV003800326 | benign | Methylmalonic acidemia with homocystinuria, type cblJ | 2023-11-29 | criteria provided, single submitter | clinical testing |