Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000406068 | SCV000431670 | uncertain significance | Limb-Girdle Muscular Dystrophy, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000305839 | SCV000431671 | uncertain significance | Miyoshi myopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000711551 | SCV000705724 | uncertain significance | not provided | 2017-01-20 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000591502 | SCV000727774 | likely benign | not specified | 2018-02-26 | 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. |
Athena Diagnostics Inc | RCV000711551 | SCV000841930 | benign | not provided | 2017-12-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001080690 | SCV001013767 | benign | Qualitative or quantitative defects of dysferlin | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000711551 | SCV003830868 | uncertain significance | not provided | 2022-03-31 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001276713 | SCV001463240 | likely benign | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2020-01-02 | no assertion criteria provided | clinical testing |