Submissions for variant NM_001267550.2(TTN):c.14935+9C>T

gnomAD frequency: 0.00005  dbSNP: rs544241749

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000152407	SCV000201426	likely benign	not specified	2014-05-01	criteria provided, single submitter	clinical testing	11203+9C>T in intron 47 of TTN: This variant is not expected to have clinical si gnificance because it is not located within the splice consensus sequence.
GeneDx	RCV000152407	SCV000236733	benign	not specified	2014-12-19	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000460720	SCV000555469	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-08	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000152407	SCV001158190	benign	not specified	2019-03-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840100	SCV002100734	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840101	SCV002100735	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840102	SCV002100736	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840099	SCV002100737	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing