Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000156317 | SCV000169336 | benign | not specified | 2014-03-26 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Laboratory for Molecular Medicine, |
RCV000156317 | SCV000206035 | likely benign | not specified | 2014-02-17 | criteria provided, single submitter | clinical testing | 59644+11G>C in intron 267 of TTN: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence. 5 9644+11G>C in intron 267 of TTN (allele frequency = n/a) |
Genome- |
RCV001839985 | SCV002100359 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839986 | SCV002100360 | benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839987 | SCV002100361 | benign | Early-onset myopathy with fatal cardiomyopathy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839984 | SCV002100362 | benign | Tibial muscular dystrophy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002055614 | SCV002398613 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-10-28 | criteria provided, single submitter | clinical testing |