Submissions for variant NM_001267550.2(TTN):c.32049A>G (p.Lys10683=)

gnomAD frequency: 0.00035  dbSNP: rs375408527

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000425746	SCV000515112	benign	not specified	2015-04-13	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	RCV001079428	SCV000555670	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-04	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000714013	SCV000844676	benign	not provided	2018-05-03	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000425746	SCV000855190	likely benign	not specified	2017-11-16	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000714013	SCV002063961	likely benign	not provided	2021-11-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840505	SCV002101805	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840506	SCV002101806	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840507	SCV002101807	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840504	SCV002101810	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000714013	SCV001744920	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000425746	SCV001920432	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000425746	SCV001957063	benign	not specified		no assertion criteria provided	clinical testing