Submissions for variant NM_001267550.2(TTN):c.104347C>T (p.Leu34783Phe)

gnomAD frequency: 0.00001  dbSNP: rs539735520

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000277595	SCV000334219	benign	not specified	2015-08-18	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000525933	SCV000642554	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-04	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001170288	SCV001332852	benign	Cardiomyopathy	2018-03-23	criteria provided, single submitter	clinical testing
Genetics and Genomics Program, Sidra Medicine	RCV001293057	SCV001434039	likely benign	Hypertrophic cardiomyopathy		criteria provided, single submitter	research
Genetics and Genomics Program, Sidra Medicine	RCV001293174	SCV001434171	likely benign	Primary dilated cardiomyopathy		criteria provided, single submitter	research
GeneDx	RCV001572757	SCV001872453	benign	not provided	2018-07-13	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840469	SCV002099789	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840470	SCV002099800	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840471	SCV002099811	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840468	SCV002099822	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001572757	SCV004150179	likely benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	TTN: BP4, BS2
PreventionGenetics, part of Exact Sciences	RCV004543009	SCV004775460	benign	TTN-related disorder	2019-07-10	criteria provided, single submitter	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).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001572757	SCV001797619	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000277595	SCV001972395	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000277595	SCV001979109	benign	not specified		no assertion criteria provided	clinical testing