Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000347920 | SCV000237983 | uncertain significance | not specified | 2016-10-14 | 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 CARDIOMYOPATHY panel(s). |
Invitae | RCV001084704 | SCV000286623 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000725471 | SCV000337163 | uncertain significance | not provided | 2015-11-10 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV001262304 | SCV001440118 | uncertain significance | Hypertrophic cardiomyopathy 9 | 2019-01-01 | criteria provided, single submitter | clinical testing | This variant was identified as compound heterozygous. |
Athena Diagnostics Inc | RCV000725471 | SCV001477133 | likely benign | not provided | 2020-03-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002345661 | SCV002621450 | likely benign | Cardiovascular phenotype | 2020-03-09 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Revvity Omics, |
RCV000725471 | SCV003824774 | uncertain significance | not provided | 2023-12-18 | criteria provided, single submitter | clinical testing |