Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000154976 | SCV000204658 | uncertain significance | not specified | 2014-10-22 | criteria provided, single submitter | clinical testing | The c.18509-14A>G variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 1/ 8216 European American chrom osomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs371352901). This variant is located in the 3' splice region. Computatio nal tools do not suggest an impact to splicing. However, this information is not predictive enough to rule out pathogenicity. In summary, the clinical significa nce of the c.18509-14A>G variant is uncertain. |
Invitae | RCV003764948 | SCV004572192 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-12-22 | criteria provided, single submitter | clinical testing |