Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000154923 | SCV000204605 | likely benign | not specified | 2012-03-19 | criteria provided, single submitter | clinical testing | Arg20784Arg in exon 275 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence. It has been identified in 0.1% (2/3144) of Afri can American chromosomes from a broad population by the NHLBI Exome Sequencing P roject (http://evs.gs.washington.edu/EVS; dbSNP rs75948012). Arg20784Arg in exo n 275 of TTN: (allele frequency = 0.1%, 2/3144; dbSNP rs 75948012) ** |
Eurofins Ntd Llc |
RCV000724396 | SCV000228538 | uncertain significance | not provided | 2014-12-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000154923 | SCV000515164 | likely benign | not specified | 2016-11-28 | 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. |
Invitae | RCV001088774 | SCV000765029 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002326883 | SCV002630974 | likely benign | Cardiovascular phenotype | 2018-03-30 | 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. |