Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000606624 | SCV000710952 | uncertain significance | not specified | 2016-07-18 | criteria provided, single submitter | clinical testing | The p.Tyr18522Phe variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 2/66068 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP r s377480514). Computational prediction tools and conservation analysis suggest th at the p.Tyr18522Phe variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical signi ficance of the p.Tyr18522Phe variant is uncertain. |
Fulgent Genetics, |
RCV000765560 | SCV000896875 | 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 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV003480708 | SCV004225842 | uncertain significance | not provided | 2022-03-17 | criteria provided, single submitter | clinical testing | BP4, PM2 |