Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000604866 | SCV000712245 | uncertain significance | not specified | 2016-06-16 | criteria provided, single submitter | clinical testing | The p.Arg24357Lys variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 2/66698 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP r s748215561). Computational prediction tools and conservation analysis do not pro vide strong support for or against an impact to the protein. In summary, the cli nical significance of the p.Arg24357Lys variant is uncertain. |
Fulgent Genetics, |
RCV002483673 | SCV002788647 | 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 | 2021-07-25 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV003480709 | SCV004225807 | uncertain significance | not provided | 2023-04-13 | criteria provided, single submitter | clinical testing |