Submissions for variant NM_001267550.2(TTN):c.51739+14C>A

gnomAD frequency: 0.00005  dbSNP: rs727505018

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000156442	SCV000206161	likely benign	not specified	2014-05-01	criteria provided, single submitter	clinical testing	44035+14C>A in intron 221 of TTN: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence.
GeneDx	RCV000156442	SCV000236653	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000156442	SCV001158193	benign	not specified	2019-03-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840184	SCV002100567	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840185	SCV002100568	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840186	SCV002100569	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840183	SCV002100570	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
Invitae	RCV002053880	SCV002373962	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-08	criteria provided, single submitter	clinical testing