Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000184962 | SCV000237737 | uncertain significance | not specified | 2014-02-17 | criteria provided, single submitter | clinical testing | Missense variants in the TTN gene are considered 'unclassified' if they are not previously reported in the literature and do not have >1% frequency in the population to be considered a polymorphism. Research indicates that truncating mutations in the TTN gene are expected to account for approximately 25% of familial and 18% of sporadic idiopathic DCM; however, truncating variants in the TTN gene have been reported in approximately 3% of reported control alleles. There has been little investigation into non-truncating variants. (Herman D et al. Truncations of titin causing dilated cardiomyopathy. N Eng J Med 366:619-628, 2012) The variant is found in DCM-CRDM panel(s). |
Labcorp Genetics |
RCV000951969 | SCV001098430 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-12-10 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001170307 | SCV001332876 | benign | Cardiomyopathy | 2018-03-28 | criteria provided, single submitter | clinical testing | |
Genetics and Genomics Program, |
RCV001293132 | SCV001434122 | uncertain significance | Primary dilated cardiomyopathy | criteria provided, single submitter | research | ||
Revvity Omics, |
RCV003137740 | SCV003818461 | uncertain significance | not provided | 2020-08-05 | criteria provided, single submitter | clinical testing |