Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040809 | SCV000064500 | likely benign | not specified | 2012-03-19 | criteria provided, single submitter | clinical testing | Ser28842Ser in exon 289 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 w ithin the splice consensus sequence. It has been identified in 1/6608 European A merican chromosomes from a broad population by the NHLBI Exome Sequencing Projec t (http://evs.gs.washington.edu/EVS;). Ser28842Ser in exon 289 of TTN (allele f requency = 1/6608) ** |
Labcorp Genetics |
RCV000462203 | SCV000555455 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-12-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002362652 | SCV002665947 | likely benign | Cardiovascular phenotype | 2020-02-25 | 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, |
RCV002496651 | SCV002808485 | 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 | 2021-08-10 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV004710464 | SCV005259373 | likely benign | not provided | criteria provided, single submitter | not provided |