Submissions for variant NM_001267550.2(TTN):c.103365C>T (p.Arg34455=)

dbSNP: rs398124462

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000082471	SCV000114506	likely benign	not specified	2016-02-12	criteria provided, single submitter	clinical testing
GeneDx	RCV001529716	SCV000515191	likely benign	not provided	2020-03-25	criteria provided, single submitter	clinical testing
Invitae	RCV000868545	SCV001009885	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2023-10-09	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839887	SCV002099968	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839888	SCV002099979	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839889	SCV002099990	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839886	SCV002100001	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002390245	SCV002675292	likely benign	Cardiovascular phenotype	2022-04-09	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV001529716	SCV002822721	likely benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	TTN: BP4, BP7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529716	SCV001743648	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000082471	SCV001917220	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001529716	SCV001972927	likely benign	not provided		no assertion criteria provided	clinical testing