ClinVar Miner

Submissions for variant NM_003283.6(TNNT1):c.35A>G (p.Glu12Gly) (rs112562759)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000080082 SCV000111977 benign not specified 2012-09-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000080082 SCV000153058 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000080082 SCV000269880 benign not specified 2014-11-26 criteria provided, single submitter clinical testing p.Glu12Gly in exon 3 of TNNT1: This variant is not expected to have clinical sig nificance because it has been identified in 9.8% (840/8600) of European American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu /EVS/; dbSNP rs112562759).
PreventionGenetics,PreventionGenetics RCV000080082 SCV000309546 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000263178 SCV000483784 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000299675 SCV000483785 likely benign Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000354576 SCV000483786 likely benign Dilated Cardiomyopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000259493 SCV000483787 likely benign Familial restrictive cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000080082 SCV000519770 benign not specified 2016-02-10 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.
Illumina Clinical Services Laboratory,Illumina RCV001129797 SCV001289344 likely benign Nemaline myopathy 5 2018-01-12 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV001129797 SCV001718024 benign Nemaline myopathy 5 2020-11-27 criteria provided, single submitter clinical testing
Leiden Muscular Dystrophy (TNNT1) RCV000024560 SCV000045864 not provided not provided 2012-03-18 no assertion provided curation

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