Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000218450 | SCV000272747 | uncertain significance | not specified | 2015-03-12 | criteria provided, single submitter | clinical testing | The p.Ala21543Pro variant in TTN has not been previously identified in individua ls with cardiomyopathy, but has been identified in 5/66130 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs369671334). Computational prediction tools and conservation analysis suggest that this variant may impact the protein, though this information is not predict ive enough to determine pathogenicity. In summary, the clinical significance of the p.Ala21543Pro variant is uncertain. |
Invitae | RCV000529114 | SCV000643626 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-11-13 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000727259 | SCV000707047 | uncertain significance | not provided | 2017-03-20 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000764318 | SCV000895337 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 | 2021-11-22 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000727259 | SCV003821054 | uncertain significance | not provided | 2023-01-02 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003486776 | SCV004240097 | likely benign | Cardiomyopathy | 2023-02-21 | criteria provided, single submitter | clinical testing |