Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000400294 | SCV000423343 | uncertain significance | Early-onset myopathy with fatal cardiomyopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000305614 | SCV000423344 | uncertain significance | Limb-Girdle Muscular Dystrophy, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000341766 | SCV000423345 | uncertain significance | Dilated Cardiomyopathy, Dominant | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000392186 | SCV000423346 | uncertain significance | Tibial muscular dystrophy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000302027 | SCV000423347 | uncertain significance | Hypertrophic cardiomyopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000365954 | SCV000423348 | uncertain significance | Myopathy, myofibrillar, 9, with early respiratory failure | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002392890 | SCV002703150 | uncertain significance | Cardiovascular phenotype | 2018-09-29 | criteria provided, single submitter | clinical testing | The p.R5374H variant (also known as c.16121G>A), located in coding exon 62 of the TTN gene, results from a G to A substitution at nucleotide position 16121. The arginine at codon 5374 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, histidine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |