Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040999 | SCV000064690 | likely benign | not specified | 2015-03-11 | criteria provided, single submitter | clinical testing | p.Gly3639Gly in exon 45A of TTN: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 0.3% (29/11492) o f Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs140804168). |
Gene |
RCV000040999 | SCV000169545 | benign | not specified | 2014-04-27 | 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 |
RCV000040999 | SCV000702548 | benign | not specified | 2016-10-19 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000997578 | SCV001153147 | likely benign | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | TTN: BP4, BP7 |
ARUP Laboratories, |
RCV000997578 | SCV001157579 | likely benign | not provided | 2023-11-02 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002496654 | SCV002807490 | 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 | 2021-08-26 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004537127 | SCV004746245 | likely benign | TTN-related disorder | 2019-04-26 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Genome Diagnostics Laboratory, |
RCV000997578 | SCV002033915 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000040999 | SCV002034657 | benign | not specified | no assertion criteria provided | clinical testing | ||
Diagnostic Laboratory, |
RCV000997578 | SCV002034952 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV000997578 | SCV002035936 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000997578 | SCV002037512 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000997578 | SCV002038409 | likely benign | not provided | no assertion criteria provided | clinical testing |