Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152540 | SCV000201743 | uncertain significance | not specified | 2014-08-21 | criteria provided, single submitter | clinical testing | The Pro6Leu variant in TTN gene has not been previously reported in individuals with cardiomyopathy or in large population studies. This variant is listed in db SNP (rs201490999) without frequency information. Computational prediction tools and conservation analysis suggest that this variant may impact the protein, thou gh this information is not predictive enough to determine pathogenicity. In summ ary, the clinical significance of the Pro6Leu variant is uncertain. |
Fulgent Genetics, |
RCV000765597 | SCV000896912 | 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 | 2021-09-20 | criteria provided, single submitter | clinical testing |