Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156551 | SCV000206270 | uncertain significance | not specified | 2014-05-08 | criteria provided, single submitter | clinical testing | The Ser26818Cys variant in TTN has not been previously reported in individuals w ith cardiomyopathy or in large population studies. Computational prediction too ls and conservation analysis do not provide strong support for or against an imp act to the normal function of the protein. In summary, the clinical significance of the Ser26818Cys variant is uncertain. |
Invitae | RCV000473003 | SCV000542536 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-07-27 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000714107 | SCV000709282 | uncertain significance | not provided | 2018-01-12 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000714107 | SCV000844780 | uncertain significance | not provided | 2017-09-21 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002484952 | SCV002776822 | 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 | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000714107 | SCV003820117 | uncertain significance | not provided | 2021-06-17 | criteria provided, single submitter | clinical testing |