Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000423326 | SCV000515185 | 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. |
Centre for Mendelian Genomics, |
RCV001198132 | SCV001368963 | benign | Tibial muscular dystrophy | 2019-03-27 | criteria provided, single submitter | clinical testing | This variant was classified as: Benign. The following ACMG criteria were applied in classifying this variant: BS1,BP4. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000423326 | SCV002074508 | uncertain significance | not specified | 2022-01-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002061567 | SCV002340782 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-18 | criteria provided, single submitter | clinical testing |