Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152343 | SCV000201242 | uncertain significance | not specified | 2013-10-21 | criteria provided, single submitter | clinical testing | The Arg14259Trp variant in TTN has previously reported in individuals with cardi omyopathy or in large population studies. Computational analyses (biochemical am ino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provid e strong support for or against an impact to the protein. Additional information is needed to fully assess the clinical significance of this variant. |
Fulgent Genetics, |
RCV002483318 | SCV002781608 | 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 | 2021-09-23 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003436960 | SCV004152398 | uncertain significance | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing |