Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000726455 | SCV000344777 | uncertain significance | not provided | 2017-01-18 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000405461 | SCV000431753 | uncertain significance | Miyoshi myopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000300931 | SCV000431754 | uncertain significance | Limb-Girdle Muscular Dystrophy, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000726455 | SCV000621284 | likely benign | not provided | 2020-07-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001082501 | SCV000649625 | likely benign | Qualitative or quantitative defects of dysferlin | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000726455 | SCV001143812 | uncertain significance | not provided | 2018-12-24 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001271788 | SCV001453228 | likely benign | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2020-01-06 | no assertion criteria provided | clinical testing |