Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155961 | SCV000205673 | uncertain significance | not specified | 2013-08-15 | criteria provided, single submitter | clinical testing | The Ile4971Val variant in TTN has not been reported in individuals with cardiomy opathy or in large population studies. Computational analyses are limited or un available for this variant. Additional information is needed to fully assess the clinical significance of the Ile4971Val variant. |
Fulgent Genetics, |
RCV002492590 | SCV002797047 | 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 | 2022-01-24 | criteria provided, single submitter | clinical testing |