Total submissions: 14
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000154076 | SCV000203717 | uncertain significance | not provided | 2013-12-04 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000194325 | SCV000249256 | uncertain significance | not specified | 2014-11-04 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000365323 | SCV000423457 | uncertain significance | Hypertrophic cardiomyopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000272958 | SCV000423458 | uncertain significance | Limb-girdle muscular dystrophy, recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000325637 | SCV000423459 | uncertain significance | Early-onset myopathy with fatal cardiomyopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000382530 | SCV000423460 | uncertain significance | Myopathy, myofibrillar, 9, with early respiratory failure | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000295190 | SCV000423461 | uncertain significance | Dilated Cardiomyopathy, Dominant | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000333713 | SCV000423462 | uncertain significance | Tibial muscular dystrophy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000470298 | SCV000542796 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-07-25 | criteria provided, single submitter | clinical testing | |
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV000154076 | SCV000987529 | likely benign | not provided | criteria provided, single submitter | clinical testing | ||
CHEO Genetics Diagnostic Laboratory, |
RCV001171018 | SCV001333687 | benign | Cardiomyopathy | 2018-04-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002381487 | SCV002692715 | likely benign | Cardiovascular phenotype | 2020-09-28 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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, |
RCV000154076 | SCV003818513 | uncertain significance | not provided | 2019-09-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000154076 | SCV000237142 | not provided | not provided | 2014-04-09 | 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,CARDIOMYOPATHY panel(s). |