Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000254286 | SCV000316143 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000367493 | SCV000348470 | uncertain significance | Nemaline myopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001795467 | SCV000348471 | uncertain significance | Congenital myopathy with fiber type disproportion | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001722357 | SCV000571411 | likely benign | not provided | 2018-06-05 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002058418 | SCV002362647 | benign | Congenital myopathy 4B, autosomal recessive; Congenital myopathy with fiber type disproportion | 2024-01-29 | criteria provided, single submitter | clinical testing |