Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000220525 | SCV000271066 | likely benign | not specified | 2012-03-19 | criteria provided, single submitter | clinical testing | p.Arg20249Arg in Exon 271 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 1/6648 European Ame rican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS;). |
Gene |
RCV001697246 | SCV000534381 | likely benign | not provided | 2018-09-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000643705 | SCV000765392 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-09-22 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000769970 | SCV000901396 | likely benign | Cardiomyopathy | 2016-12-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002327083 | SCV002628520 | likely benign | Cardiovascular phenotype | 2021-12-17 | 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. |