Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000727844 | SCV000855291 | uncertain significance | not provided | 2018-07-18 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000727844 | SCV000892607 | uncertain significance | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | TTN: PM2 |
Fulgent Genetics, |
RCV002493306 | SCV002780266 | 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 | 2021-08-05 | criteria provided, single submitter | clinical testing |