Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000184106 | SCV000236657 | benign | not specified | 2014-09-09 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Laboratory for Molecular Medicine, |
RCV000184106 | SCV000272684 | uncertain significance | not specified | 2015-11-12 | criteria provided, single submitter | clinical testing | The c.45583+6G>A variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 0.14% (14/9796) of European chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g/; dbSNP rs149890360). This variant is located in the 5' splice region. Computa tional tools do not suggest an impact to splicing. However, this information is not predictive enough to rule out pathogenicity. In summary, the clinical signif icance of the c.45583+6G>A variant is uncertain. |
Labcorp Genetics |
RCV000230798 | SCV000286711 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-08-14 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000184106 | SCV003801253 | uncertain significance | not specified | 2023-01-29 | criteria provided, single submitter | clinical testing |