Submissions for variant NM_003283.6(TNNT1):c.33-8G>A

gnomAD frequency: 0.04332  dbSNP: rs76630067

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000118644	SCV000269879	benign	not specified	2015-01-13	criteria provided, single submitter	clinical testing	c.33-8G>A in intron 2 of TNNT1: This variant is not expected to have clinical si gnificance because it has been identified in 7.6% (333/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs76630067).
PreventionGenetics, part of Exact Sciences	RCV000118644	SCV000309545	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000326614	SCV000414737	likely benign	Nemaline Myopathy, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000333667	SCV000483788	likely benign	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000388119	SCV000483789	likely benign	Hypertrophic cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000274929	SCV000483790	likely benign	Familial restrictive cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000330078	SCV000483791	likely benign	Dilated Cardiomyopathy, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000118644	SCV000519723	benign	not specified	2016-01-28	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 Laboratory Services, Illumina	RCV001129798	SCV001289345	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	RCV001129798	SCV001722964	benign	Nemaline myopathy 5	2024-01-31	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000118644	SCV000153057	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.