Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000215401 | SCV000272666 | uncertain significance | not specified | 2015-05-27 | criteria provided, single submitter | clinical testing | The p.Glu13852Lys variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been indentified in 3/66084 European chromosomes b y the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Compu tational prediction tools and conservation analysis suggest that the p.Glu13852L ys variant may impact the protein, though this information is not predictive eno ugh to determine pathogenicity. In summary, the clinical significance of the p.G lu13852Lys variant is uncertain. |
Invitae | RCV000474421 | SCV000542951 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2016-09-04 | criteria provided, single submitter | clinical testing |