Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000216049 | SCV000272649 | uncertain significance | not specified | 2015-01-28 | criteria provided, single submitter | clinical testing | The c.36578-6G>A variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 4/9802 African chromosomes by th e Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs37 2166634). In addition, this variant is located in the 3' splice region and compu tational tools do not suggest an impact to splicing. However, this information i s not predictive enough to rule out pathogenicity. In summary, the clinical sign ificance of the c.36578-6G>A variant is uncertain. |
Invitae | RCV000528801 | SCV000643185 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001697220 | SCV000723099 | likely benign | not provided | 2021-03-10 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000216049 | SCV001919808 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001697220 | SCV001954279 | likely benign | not provided | no assertion criteria provided | clinical testing |