Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000680138 | SCV000807582 | 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 | 2017-09-01 | criteria provided, single submitter | clinical testing | This variant was found once in our laboratory with a de novo nonsense variant (phase unknown) in a 14-year-old male with motor delays, frequent falls, progressive weakness, myofibrillar myopathy, gynecomastia, tall habitus, obesity, cardiomyopathy, mild splenomegaly. |
Fulgent Genetics, |
RCV000680138 | SCV002780324 | 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 | 2021-08-13 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003140075 | SCV003824183 | uncertain significance | not provided | 2021-02-03 | criteria provided, single submitter | clinical testing |