Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000222125 | SCV000272596 | uncertain significance | not specified | 2016-03-02 | criteria provided, single submitter | clinical testing | The p.Arg6261Gly variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 1/63734 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs 372826489). Computational prediction tools and conservation analysis do not prov ide strong support for or against an impact to the protein. In summary, the clin ical significance of the p.Arg6261Gly variant is uncertain. |
Fulgent Genetics, |
RCV002478774 | SCV002784718 | 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 | 2021-10-19 | criteria provided, single submitter | clinical testing |