Submissions for variant NM_001267550.2(TTN):c.34708+8C>A

dbSNP: rs762808097

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000232102	SCV000286597	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-21	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000593073	SCV000701808	likely benign	not specified	2016-09-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000593073	SCV000732702	likely benign	not specified	2017-06-19	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.
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV001199178	SCV001370174	likely benign	See cases	2019-02-22	criteria provided, single submitter	clinical testing	This variant was classified as: Likely benign. The following ACMG criteria were applied in classifying this variant: BP4,BP6.
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital	RCV000593073	SCV001984157	likely benign	not specified	2020-03-19	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840381	SCV002101400	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840382	SCV002101401	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840383	SCV002101402	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840380	SCV002101404	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002494637	SCV002811953	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9	2021-11-09	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004541380	SCV004767734	likely benign	TTN-related disorder	2019-04-08	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).