Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000613871 | SCV000712112 | uncertain significance | not specified | 2016-05-27 | criteria provided, single submitter | clinical testing | The p.Glu24280Gln variant in TTN has not been previously reported in individuals with cardiomyopathy or in large population studies. Computational prediction to ols and conservation analysis suggest that the p.Glu24280Gln variant may impact the protein, though this information is not predictive enough to determine patho genicity. In summary, the clinical significance of the p.Glu24280Gln variant is uncertain. |
Invitae | RCV000643243 | SCV000764930 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-12-09 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002498889 | SCV002816026 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 | 2021-08-17 | criteria provided, single submitter | clinical testing |