Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152448 | SCV000201537 | uncertain significance | not specified | 2014-07-11 | criteria provided, single submitter | clinical testing | The Ile4482Val variant in TTN has not been previously reported in individuals wi th cardiomyopathy, but has been identified in 1/8594 of European American chromo somes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs149169686). Computational analyses and conservation information are limi ted or unavailable for this variant. In summary, the clinical significance of th e Ile4482Val variant is uncertain. |
Fulgent Genetics, |
RCV002498714 | SCV002813429 | 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 | 2021-10-22 | criteria provided, single submitter | clinical testing |