Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000214225 | SCV000272720 | uncertain significance | not specified | 2016-03-18 | criteria provided, single submitter | clinical testing | The p.Thr19041Met variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 2/9782 African chromosomes by t he Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs7 65913263). Computational prediction tools and conservation analysis suggest that the p.Thr19041Met variant may impact the protein, though this information is no t predictive enough to determine pathogenicity. In summary, the clinical signifi cance of the p.Thr19041Met variant is uncertain. |
Fulgent Genetics, |
RCV002485403 | SCV002791195 | 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 | 2021-08-20 | criteria provided, single submitter | clinical testing |