Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000184595 | SCV000237265 | uncertain significance | not specified | 2013-05-30 | 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 panel(s). |
Eurofins Ntd Llc |
RCV000727427 | SCV000708461 | uncertain significance | not provided | 2017-05-08 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000727427 | SCV003824206 | uncertain significance | not provided | 2019-10-08 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000727427 | SCV001977658 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000727427 | SCV001979204 | uncertain significance | not provided | no assertion criteria provided | clinical testing |