Submissions for variant NM_003280.3(TNNC1):c.203-5C>T

gnomAD frequency: 0.00151  dbSNP: rs142519988

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000152066	SCV000200702	likely benign	not specified	2015-04-07	criteria provided, single submitter	clinical testing	c.203-5C>T in intron 3 of TNNC1: This variant is not expected to have clinical s ignificance because it has been identified in 0.5% (51/10390) of African chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs142519988).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000205821	SCV000259891	benign	Dilated cardiomyopathy 1Z; Hypertrophic cardiomyopathy 13	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000244110	SCV000320429	likely benign	Cardiovascular phenotype	2019-03-12	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.
GeneDx	RCV001711594	SCV001939211	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000152066	SCV001923132	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001711594	SCV001966706	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003965134	SCV004778158	benign	TNNC1-related disorder	2020-01-02	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).