Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000837857 | SCV000979719 | benign | not provided | 2018-06-14 | 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. |
Genome- |
RCV001554571 | SCV001775825 | benign | Muscular dystrophy, limb-girdle, autosomal dominant 4 | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001554572 | SCV001775826 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2021-07-14 | criteria provided, single submitter | clinical testing |