Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156442 | SCV000206161 | likely benign | not specified | 2014-05-01 | criteria provided, single submitter | clinical testing | 44035+14C>A in intron 221 of TTN: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence. |
Gene |
RCV000156442 | SCV000236653 | benign | not specified | 2014-12-19 | 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. |
ARUP Laboratories, |
RCV000156442 | SCV001158193 | benign | not specified | 2019-03-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840184 | SCV002100567 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840185 | SCV002100568 | benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840186 | SCV002100569 | benign | Early-onset myopathy with fatal cardiomyopathy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840183 | SCV002100570 | benign | Tibial muscular dystrophy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002053880 | SCV002373962 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-08 | criteria provided, single submitter | clinical testing |