Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000216239 | SCV000272815 | uncertain significance | not specified | 2015-07-29 | criteria provided, single submitter | clinical testing | The p.Asn29910Thr 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 this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Asn29910Thr variant is uncertain. |
Fulgent Genetics, |
RCV002478779 | SCV002787148 | 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 | 2022-02-14 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003137819 | SCV003827313 | uncertain significance | not provided | 2021-03-22 | criteria provided, single submitter | clinical testing |