Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155602 | SCV000205310 | uncertain significance | not specified | 2013-04-02 | criteria provided, single submitter | clinical testing | The 41945-11T>C variant in TTN has been identified by our laboratory in 1 infant with DCM (LMM unpublished data). This variant has not been identified in large European American and African American populations by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/), though it may be present in other populations. It is located in the 3' splice region. Computational tools do not s uggest an impact to splicing, though this information is not predictive enough t o rule out pathogenicity. Additional information is needed to fully assess the c linical significance of this variant. |
Gene |
RCV001697150 | SCV000725615 | likely benign | not provided | 2019-06-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002056092 | SCV002397254 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-12-13 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000155602 | SCV001921283 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001697150 | SCV001929529 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001697150 | SCV001960116 | likely benign | not provided | no assertion criteria provided | clinical testing |