Submissions for variant NM_001267550.2(TTN):c.43481-16dup

dbSNP: rs730880350

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155834	SCV000205545	benign	not specified	2014-01-22	criteria provided, single submitter	clinical testing	35777-9_35777-8insT in intron 185 of TTN: This variant is not expected to have clinical significance because it does not alter the splice consensus sequence an d has been identified in 0.5% (57/11282) of European American and African Americ an chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.e du/EVS/). 35777-9_35777-8insT in intron 185 of TTN (allele frequency = 0.5%, 5 7/11282) **
Invitae	RCV000468420	SCV000555035	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001697151	SCV000716469	likely benign	not provided	2020-12-18	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840168	SCV002101151	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840169	SCV002101152	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840170	SCV002101153	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840167	SCV002101154	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing