Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute for Human Genetics and Genomic Medicine, |
RCV001797865 | SCV002039194 | uncertain significance | Tibial muscular dystrophy | 2021-12-23 | criteria provided, single submitter | clinical testing | The variant is not present in databases nor has it been reported in the literature. It was detected in a father and a son both affected by neuromuscular disease. It affects the predominant titin isoform in skeletal muscle. However, it is regarded as a variant of uncertain significance. |