ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.88858C>T (p.Leu29620=) (rs115070904)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040753 SCV000064444 benign not specified 2012-04-11 criteria provided, single submitter clinical testing Leu27052Leu in exon 281 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and has been identifi ed in 2.0% (60/2984) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs11 5070904).
Genetic Services Laboratory, University of Chicago RCV000040753 SCV000153379 benign not specified 2015-02-10 criteria provided, single submitter clinical testing
GeneDx RCV000040753 SCV000169406 benign not specified 2014-04-07 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 RCV000227815 SCV000286896 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000247074 SCV000318841 benign Cardiovascular phenotype 2013-07-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000351526 SCV000421015 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000397839 SCV000421016 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000307031 SCV000421017 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000364072 SCV000421018 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000271605 SCV000421019 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000310569 SCV000421020 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769894 SCV000901320 benign Cardiomyopathy 2016-11-09 criteria provided, single submitter clinical testing

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