Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000438061 | SCV000515135 | benign | not specified | 2015-09-22 | 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. |
Invitae | RCV000459109 | SCV000555051 | benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000438061 | SCV000616086 | benign | not specified | 2017-06-20 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000438061 | SCV000857079 | likely benign | not specified | 2017-09-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840525 | SCV002100708 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840526 | SCV002100710 | benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840527 | SCV002100711 | benign | Early-onset myopathy with fatal cardiomyopathy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840524 | SCV002100712 | benign | Tibial muscular dystrophy | 2021-09-10 | criteria provided, single submitter | clinical testing |