Total submissions: 18
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000041090 | SCV000051441 | benign | not specified | 2013-06-24 | criteria provided, single submitter | research | |
Laboratory for Molecular Medicine, |
RCV000041090 | SCV000064781 | benign | not specified | 2012-03-02 | criteria provided, single submitter | clinical testing | Thr3840Ile in exon 45B of TTN: This variant is not expected to have clinical sig nificance because it has been identified in 1.3% (38/3022) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs80136515). |
Gene |
RCV000041090 | SCV000169574 | benign | not specified | 2014-05-01 | 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. |
Labcorp Genetics |
RCV000463695 | SCV000555146 | benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000041090 | SCV000615987 | benign | not specified | 2016-08-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000619735 | SCV000736652 | benign | Cardiovascular phenotype | 2016-07-19 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV000770115 | SCV000901541 | benign | Cardiomyopathy | 2016-03-09 | criteria provided, single submitter | clinical testing | |
Center for Advanced Laboratory Medicine, |
RCV000770115 | SCV000995666 | benign | Cardiomyopathy | 2018-05-23 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839793 | SCV002100849 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839794 | SCV002100850 | benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839795 | SCV002100851 | benign | Early-onset myopathy with fatal cardiomyopathy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839792 | SCV002100853 | benign | Tibial muscular dystrophy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV002227056 | SCV002506033 | benign | not provided | 2022-02-08 | criteria provided, single submitter | clinical testing | |
Ce |
RCV002227056 | SCV004700874 | benign | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | TTN: BP4, BS1, BS2 |
Prevention |
RCV004541204 | SCV004787944 | benign | TTN-related disorder | 2019-05-29 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Breakthrough Genomics, |
RCV002227056 | SCV005241349 | benign | not provided | criteria provided, single submitter | not provided | ||
Clinical Genetics, |
RCV000041090 | SCV001923172 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000041090 | SCV001964757 | benign | not specified | no assertion criteria provided | clinical testing |