Submissions for variant NM_015978.3(TNNI3K):c.969A>G (p.Lys323=)

gnomAD frequency: 0.00136  dbSNP: rs141955645

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000886279	SCV001029779	likely benign	not provided	2025-02-02	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000886279	SCV004032957	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	TNNI3K: BP4, BP7
Genome-Nilou Lab	RCV003344118	SCV004049420	likely benign	Atrial conduction disease	2023-04-11	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003344118	SCV005878562	benign	Atrial conduction disease	2024-10-17	criteria provided, single submitter	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000886279	SCV001953817	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000886279	SCV001967377	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003895431	SCV004711261	likely benign	TNNI3K-related disorder	2019-02-20	no assertion criteria provided	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).