Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000154995 | SCV000204677 | uncertain significance | not specified | 2014-01-02 | criteria provided, single submitter | clinical testing | The Ala4168Thr variant in TTN has not been reported in individuals with cardiomyopathy or in large population studies. Evolutionary conservation and computational predictions are limited or not available for this variant. Additional information is needed to fully assess its clinical significance. |
Fulgent Genetics, |
RCV002484931 | SCV002776645 | 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 | 2022-04-13 | criteria provided, single submitter | clinical testing |