Submissions for variant NM_001267550.2(TTN):c.37461A>T (p.Glu12487Asp)

gnomAD frequency: 0.01863  dbSNP: rs200021871

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000172798	SCV000051616	benign	not specified	2013-06-24	criteria provided, single submitter	research
Invitae	RCV001082249	SCV000261582	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-24	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000204932	SCV001146388	benign	not provided	2018-12-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000204932	SCV001889944	benign	not provided	2018-06-26	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840231	SCV002101311	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840232	SCV002101312	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840233	SCV002101313	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840230	SCV002101315	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000204932	SCV001799964	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000172798	SCV001975465	benign	not specified		no assertion criteria provided	clinical testing