Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000420768 | SCV000531282 | likely benign | not specified | 2016-08-26 | 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 | RCV000895214 | SCV001039243 | likely benign | Combined malonic and methylmalonic acidemia | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003418128 | SCV004138204 | likely benign | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | ACSF3: BP4, BP7 |