Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155003 | SCV000204685 | uncertain significance | not specified | 2014-04-10 | criteria provided, single submitter | clinical testing | The Ser4651Gly variant in TTN has not been previously reported in individuals wi th cardiomyopathy, but has been identified in 1/8596 European American chromosom es and 1/4406 African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs190193836). Computational predictio n tools and conservation analysis are limited or unavailable for this variant. A dditional information is needed to fully assess the clinical significance of the Ser4651Gly variant. |
Eurofins Ntd Llc |
RCV000726957 | SCV000704430 | uncertain significance | not provided | 2016-12-30 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002498746 | SCV002792590 | 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 | 2021-09-08 | criteria provided, single submitter | clinical testing |