Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000218343 | SCV000272821 | uncertain significance | not specified | 2015-04-16 | criteria provided, single submitter | clinical testing | The p.Met31222Lys variant in TTN has not been previously reported in individuals with cardiomyopathy or in large population studies. Computational prediction to ols and conservation analysis do not provide strong support for or against an im pact to the protein, though 1 species (tenrec) has a lysine (Lys) at this positi on, raising the possibility that this change may be tolerated. In summary, the c linical significance of the p.Met31222Lys variant is uncertain. |
Labcorp Genetics |
RCV001346680 | SCV001540904 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2021-08-27 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002494576 | SCV002797026 | 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 | 2021-08-31 | criteria provided, single submitter | clinical testing |