Submissions for variant NM_001267550.2(TTN):c.7758A>G (p.Ile2586Met)

gnomAD frequency: 0.00001  dbSNP: rs556000493

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001704945	SCV000238036	likely benign	not provided	2019-03-04	criteria provided, single submitter	clinical testing
Invitae	RCV000538379	SCV000643701	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002390484	SCV002670594	benign	Cardiovascular phenotype	2020-09-18	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Revvity Omics, Revvity	RCV001704945	SCV003825869	uncertain significance	not provided	2022-06-09	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001704945	SCV001978489	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001704945	SCV001980588	uncertain significance	not provided		no assertion criteria provided	clinical testing