Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000216375 | SCV000272586 | uncertain significance | not specified | 2015-02-13 | criteria provided, single submitter | clinical testing | The p.Ser4207Gly variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 4/60976 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Computa tional prediction tools and conservation analysis suggest that the p.Ser4207Gly variant may not impact the protein, though this information is not predictive en ough to rule out pathogenicity. In summary, the clinical significance of the p.S er4207Gly variant is uncertain. |
Labcorp Genetics |
RCV000555646 | SCV000642725 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-06-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002464144 | SCV002758977 | uncertain significance | not provided | 2022-12-01 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function; Has not been previously published as pathogenic or benign to our knowledge |
Fulgent Genetics, |
RCV002494574 | SCV002794309 | 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 | 2021-08-20 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003150112 | SCV003838044 | likely benign | Cardiomyopathy | 2023-03-17 | criteria provided, single submitter | clinical testing |