Total submissions: 16
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000118803 | SCV000054867 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Genetic Services Laboratory, |
RCV000118803 | SCV000153430 | uncertain significance | not provided | 2013-12-23 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000154869 | SCV000204551 | benign | not specified | 2015-08-13 | criteria provided, single submitter | clinical testing | p.Glu31815Gln in exon 307 of TTN: This variant is not expected to have clinical significance because it has been identified in 2.5% (166/6612) of Finnish chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs148525155). |
Eurofins Ntd Llc |
RCV000154869 | SCV000229382 | benign | not specified | 2015-03-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000154869 | SCV000237909 | benign | not specified | 2017-04-20 | 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 | RCV001086370 | SCV000555369 | benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000118803 | SCV000844604 | benign | not provided | 2017-10-25 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000769847 | SCV000901273 | benign | Cardiomyopathy | 2017-02-03 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000154869 | SCV001372421 | likely benign | not specified | 2020-06-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002390268 | SCV002675227 | benign | Cardiovascular phenotype | 2018-10-31 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Ce |
RCV000118803 | SCV003916172 | likely benign | not provided | 2023-04-01 | criteria provided, single submitter | clinical testing | TTN: BS2 |
Diagnostic Laboratory, |
RCV000154869 | SCV001739526 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000154869 | SCV001921312 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000154869 | SCV001957900 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000118803 | SCV001970038 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Practice for Gait Abnormalities, |
RCV002225083 | SCV002503606 | likely pathogenic | Tip-toe gait | no assertion criteria provided | clinical testing |