ClinVar Miner

Submissions for variant NM_003283.6(TNNT1):c.47-13C>T (rs11669534)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000080083 SCV000111978 benign not specified 2015-01-09 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000080083 SCV000269881 benign not specified 2014-11-26 criteria provided, single submitter clinical testing c.47-13C>T in intron 3 of TNNT1: This variant is not expected to have clinical s ignificance because it has been identified in 14% (985/6886) of European America n chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.ed u/EVS/; dbSNP rs11669534).
PreventionGenetics,PreventionGenetics RCV000080083 SCV000309547 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000358097 SCV000414735 benign Nemaline myopathy 5 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000080083 SCV000519648 benign not specified 2016-02-04 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.
Leiden Muscular Dystrophy (TNNT1) RCV000024558 SCV000045862 not provided not provided 2012-03-18 no assertion provided curation

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