Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000123489 | SCV000166827 | benign | not specified | 2013-05-29 | 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 | RCV001523135 | SCV001732799 | benign | Combined malonic and methylmalonic acidemia | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001523135 | SCV001750296 | benign | Combined malonic and methylmalonic acidemia | 2021-07-01 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001274008 | SCV001457690 | benign | Methylmalonic acidemia | 2020-09-16 | no assertion criteria provided | clinical testing | |
Diagnostic Laboratory, |
RCV000123489 | SCV001742961 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000123489 | SCV001952697 | benign | not specified | no assertion criteria provided | clinical testing |