Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000839820 | SCV000981727 | likely benign | not provided | 2018-06-16 | 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- |
RCV001526796 | SCV001737410 | benign | Muscular dystrophy, limb-girdle, autosomal dominant 4 | 2021-06-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001526797 | SCV001737411 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2021-06-10 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001526797 | SCV002085537 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2019-08-26 | no assertion criteria provided | clinical testing |