Submissions for variant NM_001267550.2(TTN):c.36461C>G (p.Pro12154Arg)

gnomAD frequency: 0.00034  dbSNP: rs371580084

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000233263	SCV000286606	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2017-12-01	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002500772	SCV002789724	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9	2021-09-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001529493	SCV004152464	uncertain significance	not provided	2023-07-01	criteria provided, single submitter	clinical testing	TTN: PM2, BP4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529493	SCV001743043	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001699078	SCV001918752	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001529493	SCV001952100	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001529493	SCV001972063	likely benign	not provided		no assertion criteria provided	clinical testing