Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041091 | SCV000064782 | likely benign | not specified | 2015-04-16 | criteria provided, single submitter | clinical testing | p.Thr3840Thr in exon 45B of TTN: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 0.1% (17/16508) o f South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac .broadinstitute.org; dbSNP rs192857526). |
Gene |
RCV000041091 | SCV000236727 | benign | not specified | 2014-08-26 | 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 |
RCV001085596 | SCV000642656 | benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000585032 | SCV000693029 | likely benign | not provided | 2024-06-01 | criteria provided, single submitter | clinical testing | TTN: BP4, BP7 |
Eurofins Ntd Llc |
RCV000041091 | SCV000855258 | likely benign | not specified | 2018-07-16 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001798217 | SCV002042359 | likely benign | Cardiomyopathy | 2020-08-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002433522 | SCV002751633 | benign | Cardiovascular phenotype | 2020-11-23 | 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. |
Diagnostic Laboratory, |
RCV000585032 | SCV001744115 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000585032 | SCV001951178 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000585032 | SCV001964706 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000041091 | SCV001978995 | benign | not specified | no assertion criteria provided | clinical testing |