Submissions for variant NM_001267550.2(TTN):c.100766-10dup

dbSNP: rs749872538

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000177496	SCV000229367	likely benign	not specified	2014-12-17	criteria provided, single submitter	clinical testing
GeneDx	RCV001706974	SCV001899369	benign	not provided	2019-08-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001842792	SCV002100907	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001842793	SCV002100919	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001842794	SCV002100930	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001842791	SCV002100941	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000177496	SCV001926175	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000177496	SCV001926380	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001706974	SCV002035567	likely benign	not provided		no assertion criteria provided	clinical testing