Submissions for variant NM_001267550.2(TTN):c.75745C>T (p.Arg25249Cys)

gnomAD frequency: 0.00002  dbSNP: rs397517702

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000040611	SCV000064302	benign	not specified	2021-01-26	criteria provided, single submitter	clinical testing	The p.Arg22681Cys variant in TTN is classified as benign because it has been identified in 0.65% (200/30564) of South Asian chromosomes by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BA1.
Eurofins Ntd Llc (ga)	RCV000040611	SCV000335465	benign	not specified	2015-10-06	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000535856	SCV000643672	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2025-01-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001719775	SCV000719146	likely benign	not provided	2019-01-02	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001171267	SCV001333976	benign	Cardiomyopathy	2017-11-28	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839693	SCV002100199	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839694	SCV002100200	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839695	SCV002100201	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839692	SCV002100203	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001719775	SCV005040977	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	TTN: BS2
Clinical Genetics, Academic Medical Center	RCV000040611	SCV001923550	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000040611	SCV001930935	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001719775	SCV001968787	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004541176	SCV004782715	likely benign	TTN-related disorder	2019-04-08	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).