Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152173 | SCV000200902 | likely benign | not specified | 2014-07-01 | criteria provided, single submitter | clinical testing | 89200+8C>T in intron 296 of TTN: This variant is not expected to have clinical s ignificance because it does not diverge from the splice site consensus sequence and computational tools do not predict an impact to splicing. |
Invitae | RCV000863554 | SCV001004241 | benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840068 | SCV002102090 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840069 | SCV002102091 | benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840070 | SCV002102092 | benign | Early-onset myopathy with fatal cardiomyopathy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840067 | SCV002102093 | benign | Tibial muscular dystrophy | 2021-09-10 | criteria provided, single submitter | clinical testing |