Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000213571 | SCV000272800 | uncertain significance | not specified | 2015-04-16 | criteria provided, single submitter | clinical testing | The p.Arg28492Cys variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 3/16508 South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Com putational prediction tools and conservation analysis do not provide strong supp ort for or against an impact to the protein. In summary, the clinical significan ce of the p.Arg28492Cys variant is uncertain. |
Invitae | RCV000643311 | SCV000764998 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-08-11 | criteria provided, single submitter | clinical testing |