Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155844 | SCV000205555 | uncertain significance | not specified | 2014-03-14 | criteria provided, single submitter | clinical testing | The 915-4_915-3insT variant in TTN has not been reported in individuals with car diomyopathy, but has been identified in 2/8254 European American chromosomes and 1/4266 African American chromosomes by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS/). This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing. However, this informa tion is not predictive enough to rule out pathogenicity. In summary, additional information is needed to fully assess the clinical significance of the 915-4_915 -3insT variant. |
Illumina Laboratory Services, |
RCV000406759 | SCV000425324 | uncertain significance | Tibial muscular dystrophy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000300592 | SCV000425325 | uncertain significance | Myopathy, myofibrillar, 9, with early respiratory failure | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000355394 | SCV000425326 | uncertain significance | Limb-Girdle Muscular Dystrophy, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000274682 | SCV000425327 | uncertain significance | Hypertrophic cardiomyopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000315354 | SCV000425328 | uncertain significance | Dilated Cardiomyopathy, Dominant | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000370086 | SCV000425329 | uncertain significance | Early-onset myopathy with fatal cardiomyopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001444879 | SCV001647895 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-12-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001550105 | SCV001770385 | likely benign | not provided | 2018-11-05 | criteria provided, single submitter | clinical testing |