Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156090 | SCV000205803 | uncertain significance | not specified | 2013-09-26 | criteria provided, single submitter | clinical testing | The Arg11257Gln variant in TTN has not been previously reported in individuals w ith cardiomyopathy or in larger population studies. Computational analyses (bioc hemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the normal function of th e protein. Additional information is needed to fully assess the clinical signifi cance of this variant. |
Fulgent Genetics, |
RCV002478462 | SCV002778687 | 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 | 2021-09-29 | criteria provided, single submitter | clinical testing |