Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152194 | SCV000200941 | likely benign | not specified | 2014-07-21 | criteria provided, single submitter | clinical testing | Ala26901Ala in exon 280 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. |
Labcorp Genetics |
RCV000887825 | SCV001031411 | benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-11-28 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840076 | SCV002102258 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840077 | SCV002102259 | benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840078 | SCV002102260 | benign | Early-onset myopathy with fatal cardiomyopathy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840075 | SCV002102263 | benign | Tibial muscular dystrophy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002354349 | SCV002654404 | likely benign | Cardiovascular phenotype | 2018-12-05 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Fulgent Genetics, |
RCV002498709 | SCV002807455 | likely benign | 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 | 2021-08-09 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003326362 | SCV004033802 | likely benign | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | TTN: BP4, BP7 |