Submissions for variant NM_000363.5(TNNI3):c.303C>T (p.His101=)

gnomAD frequency: 0.00005  dbSNP: rs199539066

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036282	SCV000059934	likely benign	not specified	2011-04-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000620102	SCV000736798	likely benign	Cardiovascular phenotype	2017-03-14	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000629081	SCV000749994	likely benign	Hypertrophic cardiomyopathy	2024-12-20	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001180814	SCV001345838	likely benign	Cardiomyopathy	2018-11-21	criteria provided, single submitter	clinical testing
GeneDx	RCV001092524	SCV001939226	likely benign	not provided	2018-09-04	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000629081	SCV004819079	likely benign	Hypertrophic cardiomyopathy	2023-12-13	criteria provided, single submitter	clinical testing