Submissions for variant NM_000363.5(TNNI3):c.25-4C>T

gnomAD frequency: 0.00069  dbSNP: rs202086705

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036279	SCV000059931	likely benign	not specified	2013-12-26	criteria provided, single submitter	clinical testing	25-4C>T in intron 2 of TNNI3: This variant is not expected to have clinical sign ificance because it does not affect the splice consensus sequence. It has been i dentified in 0.25% (10/4014) of African American chromosomes from a broad popula tion by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS) 2 5-4C>T in intron 2 of TNNI3 (allele frequency = 0.25%; 10/4014)
GeneDx	RCV000036279	SCV000514918	benign	not specified	2015-05-12	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.
Invitae	RCV000462385	SCV000562159	benign	Hypertrophic cardiomyopathy	2024-01-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000620983	SCV000737185	likely benign	Cardiovascular phenotype	2019-03-04	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769533	SCV000900928	benign	Cardiomyopathy	2018-04-30	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000769533	SCV001344877	benign	Cardiomyopathy	2018-12-13	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004549439	SCV004758871	likely benign	TNNI3-related disorder	2019-12-12	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center	RCV000036279	SCV001924643	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001701726	SCV001931029	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001701726	SCV001964087	likely benign	not provided		no assertion criteria provided	clinical testing