Submissions for variant NM_001267550.2(TTN):c.36509A>T (p.Glu12170Val)

gnomAD frequency: 0.00224  dbSNP: rs200840285

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000172677	SCV000051431	likely benign	not provided	2013-06-24	criteria provided, single submitter	research
Invitae	RCV001081269	SCV000286608	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000172677	SCV000609002	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	TTN: BP4, BS1
Athena Diagnostics	RCV000517437	SCV000616064	benign	not specified	2017-05-04	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000172677	SCV001159562	likely benign	not provided	2023-10-26	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840227	SCV002101346	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840228	SCV002101348	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840229	SCV002101349	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840226	SCV002101350	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004535179	SCV004744701	likely benign	TTN-related disorder	2019-06-03	criteria provided, single submitter	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).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000172677	SCV001741106	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000517437	SCV001918036	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000517437	SCV001951731	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000172677	SCV001970348	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000172677	SCV002036786	likely benign	not provided		no assertion criteria provided	clinical testing