Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172662 | SCV000051266 | likely benign | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Ce |
RCV000172662 | SCV000493403 | uncertain significance | not provided | 2021-12-01 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000172662 | SCV000855041 | uncertain significance | not provided | 2018-01-19 | criteria provided, single submitter | clinical testing | |
Center for Advanced Laboratory Medicine, |
RCV000852843 | SCV000995574 | likely benign | Arrhythmogenic right ventricular cardiomyopathy | 2019-04-09 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000172662 | SCV003822331 | likely benign | not provided | 2023-10-05 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003486723 | SCV004239940 | benign | Cardiomyopathy | 2023-05-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000172662 | SCV000237289 | not provided | not provided | 2013-09-27 | no assertion provided | 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). |