Total submissions: 18
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000223093 | SCV000237562 | benign | not specified | 2016-08-24 | 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. |
Laboratory for Molecular Medicine, |
RCV000223093 | SCV000271081 | likely benign | not specified | 2015-04-29 | criteria provided, single submitter | clinical testing | p.Arg23073His in exon 275 of TTN: This variant is not expected to have clinical significance because it has been identified in 0.64% (100/15620) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut e.org; dbSNP rs369707906). |
Invitae | RCV001079555 | SCV000286840 | benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000223093 | SCV000335015 | likely benign | not specified | 2015-09-15 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000342317 | SCV000421699 | uncertain significance | Early-onset myopathy with fatal cardiomyopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000395107 | SCV000421700 | uncertain significance | Dilated Cardiomyopathy, Dominant | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000297719 | SCV000421701 | uncertain significance | Tibial muscular dystrophy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000338766 | SCV000421702 | uncertain significance | Myopathy, myofibrillar, 9, with early respiratory failure | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000398493 | SCV000421703 | uncertain significance | Limb-Girdle Muscular Dystrophy, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000312841 | SCV000421704 | uncertain significance | Hypertrophic cardiomyopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000714096 | SCV000844763 | likely benign | not provided | 2018-02-20 | criteria provided, single submitter | clinical testing | |
Center for Advanced Laboratory Medicine, |
RCV000852810 | SCV000995539 | likely benign | Sudden cardiac arrest | 2019-03-15 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000223093 | SCV002104068 | likely benign | not specified | 2022-02-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002336490 | SCV002643982 | likely benign | Cardiovascular phenotype | 2019-05-29 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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, |
RCV003150073 | SCV003837972 | benign | Cardiomyopathy | 2021-11-25 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000714096 | SCV004150276 | likely benign | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | TTN: BS2 |
Clinical Genetics, |
RCV000223093 | SCV001917353 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000714096 | SCV001969212 | likely benign | not provided | no assertion criteria provided | clinical testing |