Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000220105 | SCV000272590 | uncertain significance | not specified | 2015-10-01 | criteria provided, single submitter | clinical testing | The p.Ser4646Thr variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 6/11568 of Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Comput ational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Ser4646Thr variant is uncertain. |
Labcorp Genetics |
RCV000466015 | SCV000542538 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2016-04-10 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000731115 | SCV000858892 | uncertain significance | not provided | 2018-01-04 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002485400 | SCV002786412 | 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 | 2021-07-05 | criteria provided, single submitter | clinical testing |