Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000217171 | SCV000272781 | uncertain significance | not specified | 2015-04-01 | criteria provided, single submitter | clinical testing | The p.Lys25291Glu variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 7/8526 East Asian chromosomes b y the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Compu tational prediction tools do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Lys25291Glu vari ant is uncertain. |
Labcorp Genetics |
RCV000476633 | SCV000542960 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2016-10-05 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003137818 | SCV003827246 | uncertain significance | not provided | 2023-04-26 | criteria provided, single submitter | clinical testing |