Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000128359 | SCV000171953 | benign | not specified | 2011-07-05 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000128359 | SCV001519465 | likely benign | not specified | 2021-03-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003621505 | SCV004454147 | likely benign | 3-Methylglutaconic aciduria type 2 | 2023-04-06 | criteria provided, single submitter | clinical testing |