Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000642900 | SCV000764587 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-11-30 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002493005 | SCV002785940 | 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 | 2021-10-05 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV004017706 | SCV004848884 | uncertain significance | Primary dilated cardiomyopathy | 2023-01-23 | criteria provided, single submitter | clinical testing | The p.Glu3832Lys variant in TTN has not been previously reported in individuals with cardiomyopathy and was absent from large population studies. This variant has also been reported in ClinVar (Variation ID 535115). In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting. |