Submissions for variant NM_000363.5(TNNI3):c.336C>T (p.Tyr112=)

gnomAD frequency: 0.00001  dbSNP: rs559450042

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000217450	SCV000270928	likely benign	not specified	2015-02-16	criteria provided, single submitter	clinical testing	p.Tyr112Tyr in exon 6 of TNNI3: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 6/16424 South Asia n chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstit ute.org).
GeneDx	RCV000217450	SCV000514920	benign	not specified	2015-12-04	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.
Color Diagnostics, LLC DBA Color Health	RCV001189151	SCV001356377	likely benign	Cardiomyopathy	2018-11-16	criteria provided, single submitter	clinical testing
Invitae	RCV001444772	SCV001647783	likely benign	Hypertrophic cardiomyopathy	2024-01-21	criteria provided, single submitter	clinical testing