ClinVar Miner

Submissions for variant NM_003283.6(TNNT1):c.129-9T>G (rs67795913)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000118643 SCV000269878 benign not specified 2015-01-13 criteria provided, single submitter clinical testing c.129-9T>G in intron 6 of TNNT1: This variant is not expected to have clinical s ignificance because it has been identified in 14.6% (1253/8600) of European Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS; dbSNP rs67795913).
PreventionGenetics,PreventionGenetics RCV000118643 SCV000309543 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000614709 SCV000414733 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.
GeneDx RCV000118643 SCV000519724 benign not specified 2016-02-08 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.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000614709 SCV000743612 benign Nemaline myopathy 5 2015-12-09 criteria provided, single submitter clinical testing
Invitae RCV000614709 SCV001731054 benign Nemaline myopathy 5 2020-12-04 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000118643 SCV000153056 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000614709 SCV000733926 benign Nemaline myopathy 5 no assertion criteria provided clinical testing

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