Total submissions: 18
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000040159 | SCV000055026 | benign | not specified | 2013-06-24 | criteria provided, single submitter | research | |
Laboratory for Molecular Medicine, |
RCV000040159 | SCV000063850 | benign | not specified | 2012-11-27 | criteria provided, single submitter | clinical testing | Glu9928dup in exon 137 of TTN: This variant is not expected to have clinical sig nificance because it has been identified in 1.6% (131/7868) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS/). |
Genetic Services Laboratory, |
RCV000040159 | SCV000249252 | uncertain significance | not specified | 2014-09-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000205941 | SCV000262484 | benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Preventiongenetics, |
RCV000040159 | SCV000315473 | benign | not specified | 2018-10-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000243187 | SCV000318394 | benign | Cardiovascular phenotype | 2013-02-28 | 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. |
Eurofins Ntd Llc |
RCV000040159 | SCV000332839 | benign | not specified | 2015-07-06 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000770056 | SCV000901482 | benign | Cardiomyopathy | 2019-05-10 | criteria provided, single submitter | clinical testing | |
Center for Advanced Laboratory Medicine, |
RCV000852873 | SCV000995607 | likely benign | Primary dilated cardiomyopathy; Brugada syndrome | 2018-12-24 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000993425 | SCV001146375 | benign | not provided | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000040159 | SCV001361566 | benign | not specified | 2019-08-26 | criteria provided, single submitter | clinical testing | Variant summary: TTN c.29781_29783dupAGA (p.Glu9928dup) results in an in-frame duplication in exon 137 of the encoded protein. The variant allele was found at a frequency of 0.011 in 248470 control chromosomes in the gnomAD database, including 22 homozygotes. The observed variant frequency is approximately 18.0 fold of the estimated maximal expected allele frequency for a pathogenic variant in TTN causing Cardiomyopathy phenotype (0.00063), strongly suggesting that the variant is benign. To our knowledge, no conclusive occurrence of c.29781_29783dupAGA in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. Co-occurrences with other pathogenic/likely pathogenic variant(s) have been reported in the literature as well as at our laboratory (example DSP c.939+1G>A (Pugh_2014); TTN c.34782_34785delTTGT, p.Cys11595fs*9, our laboratory), providing supporting evidence for a benign role. Four clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as benign. |
Gene |
RCV000993425 | SCV001940452 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000993425 | SCV003799481 | benign | not provided | 2023-10-14 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000993425 | SCV004011273 | benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | TTN: PM4:Supporting, BS1, BS2 |
Blueprint Genetics | RCV000143967 | SCV000188848 | uncertain significance | Ventricular fibrillation, paroxysmal familial, type 1 | 2013-10-17 | no assertion criteria provided | clinical testing | |
Laboratory of Diagnostic Genome Analysis, |
RCV000993425 | SCV001800391 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000040159 | SCV001925592 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000040159 | SCV001966020 | benign | not specified | no assertion criteria provided | clinical testing |