Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040997 | SCV000064688 | likely benign | not specified | 2012-07-24 | criteria provided, single submitter | clinical testing | His3539His in exon 45A of TTN: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 0.1% (6/7020) of Eu ropean American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS). His3539His in exon 45A of TTN (al lele frequency = 0.1%, 6/7020) ** |
Gene |
RCV000040997 | SCV000515084 | benign | not specified | 2015-08-27 | 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. |
Eurofins Ntd Llc |
RCV000040997 | SCV000707092 | likely benign | not specified | 2017-03-23 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001727546 | SCV002063975 | likely benign | not provided | 2024-03-01 | criteria provided, single submitter | clinical testing | TTN: BP4, BP7 |
Fulgent Genetics, |
RCV002490573 | SCV002802278 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 | 2021-08-18 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004537126 | SCV004738683 | benign | TTN-related disorder | 2024-02-20 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Clinical Genetics, |
RCV000040997 | SCV001918238 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001727546 | SCV001976287 | likely benign | not provided | no assertion criteria provided | clinical testing |