Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000217711 | SCV000271074 | likely benign | not specified | 2012-03-19 | criteria provided, single submitter | clinical testing | p.Tyr22022Tyr in Exon 275 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence. It has been identified in 1/6636 European Ame rican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS;). |
Gene |
RCV001697289 | SCV000718023 | likely benign | not provided | 2021-02-22 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000643854 | SCV000765541 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002327085 | SCV002634285 | likely benign | Cardiovascular phenotype | 2019-08-22 | 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, |
RCV002503846 | SCV002805131 | 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 | 2021-08-11 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001697289 | SCV004150288 | uncertain significance | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | TTN: PM2, BP4 |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000217711 | SCV005203407 | likely benign | not specified | 2024-07-18 | criteria provided, single submitter | clinical testing |