Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156893 | SCV000206614 | likely benign | not specified | 2014-11-24 | criteria provided, single submitter | clinical testing | c.30560-14T>C in intron 143 of TTN: This variant is not expected to have clinica l significance because a T>C change at this position does not diverge from the s plice consensus sequence and is therefore unlikely to impact splicing. |
Gene |
RCV001689705 | SCV001907960 | benign | not provided | 2015-05-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840201 | SCV002101418 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840202 | SCV002101419 | benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840203 | SCV002101420 | benign | Early-onset myopathy with fatal cardiomyopathy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840200 | SCV002101421 | benign | Tibial muscular dystrophy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001850172 | SCV002244676 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-10 | criteria provided, single submitter | clinical testing |