Submissions for variant NM_001267550.2(TTN):c.36203-9T>C

gnomAD frequency: 0.02192  dbSNP: rs2562849

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000463948	SCV000555668	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-02-01	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000993428	SCV001146383	benign	not provided	2018-12-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000993428	SCV001941882	benign	not provided	2018-06-26	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840611	SCV002101377	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840612	SCV002101378	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840613	SCV002101379	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840610	SCV002101382	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001700378	SCV001921773	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001700378	SCV001968523	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001700378	SCV002035675	benign	not specified		no assertion criteria provided	clinical testing