Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172276 | SCV000051149 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Laboratory for Molecular Medicine, |
RCV000152244 | SCV000201051 | likely benign | not specified | 2014-12-17 | criteria provided, single submitter | clinical testing | p.Arg19914Trp in exon 268 of TTN: This variant is not expected to have clinical significance it has been identified in 0.4% (65/16614) of South Asian chromosome s by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). |
Labcorp Genetics |
RCV001082358 | SCV000643561 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-12-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000152244 | SCV000725807 | likely benign | not specified | 2017-12-13 | 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV000768948 | SCV000900321 | benign | Cardiomyopathy | 2017-10-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002371999 | SCV002625551 | benign | Cardiovascular phenotype | 2020-09-16 | 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. |
Prevention |
RCV004532693 | SCV004714206 | likely benign | TTN-related disorder | 2022-12-28 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |