Submissions for variant NM_001267550.2(TTN):c.50390G>A (p.Arg16797His)

gnomAD frequency: 0.00014  dbSNP: rs200835354

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001704890	SCV000236763	likely benign	not provided	2020-10-19	criteria provided, single submitter	clinical testing
Invitae	RCV000467045	SCV000542727	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2017-03-16	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000184146	SCV000597652	uncertain significance	not specified	2016-06-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002444747	SCV002734980	likely benign	Cardiovascular phenotype	2020-09-21	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.
Revvity Omics, Revvity	RCV001704890	SCV003824846	uncertain significance	not provided	2023-02-05	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003486744	SCV004239932	likely benign	Cardiomyopathy	2023-01-10	criteria provided, single submitter	clinical testing