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

gnomAD frequency: 0.10318  dbSNP: rs67795913

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham 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, part of Exact Sciences	RCV000118643	SCV000309543	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, 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	2024-02-01	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