Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000123490 | SCV000166828 | benign | not specified | 2013-08-06 | 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 | RCV001523009 | SCV001732655 | benign | Combined malonic and methylmalonic acidemia | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001274009 | SCV001457691 | benign | Methylmalonic acidemia | 2020-09-16 | no assertion criteria provided | clinical testing |