Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001376070 | SCV001572884 | uncertain significance | not provided | 2021-04-08 | criteria provided, single submitter | clinical testing | Frameshift variant located in the I-band region that does not affect one of the constitutive exons; studies suggest that truncating variants affecting constitutive exons throughout the TTN gene are significantly associated with DCM (Deo, 2016; Schafer et al., 2017) Observed in 1/31156 (0.0032%) alleles in large population cohorts (Lek et al., 2016) Has not been previously published as pathogenic or benign to our knowledge |
Fulgent Genetics, |
RCV002488193 | SCV002786844 | 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 | 2021-10-02 | criteria provided, single submitter | clinical testing |