Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000213839 | SCV000272843 | uncertain significance | not specified | 2015-05-18 | criteria provided, single submitter | clinical testing | The p.Ala3613Thr variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 7/66652 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs 144967245). Computational prediction tools and conservation analysis are limited or unavailable for this variant. In summary, the clinical significance of the p .Ala3613Thr variant is uncertain. |
Fulgent Genetics, |
RCV002485407 | SCV002797024 | 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 | 2021-10-25 | criteria provided, single submitter | clinical testing |