Submissions for variant NM_001267550.2(TTN):c.7957T>C (p.Leu2653=)

gnomAD frequency: 0.00019  dbSNP: rs201837864

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000253336	SCV000320125	likely benign	Cardiovascular phenotype	2015-08-25	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.
GeneDx	RCV000727155	SCV000515082	likely benign	not provided	2019-07-12	criteria provided, single submitter	clinical testing
Invitae	RCV001084325	SCV000555563	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-13	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000727155	SCV000706198	uncertain significance	not provided	2017-02-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000727155	SCV001153168	likely benign	not provided	2022-10-01	criteria provided, single submitter	clinical testing	TTN: BP4, BP7
Revvity Omics, Revvity	RCV000727155	SCV003818537	likely benign	not provided	2023-08-25	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000429305	SCV004039121	likely benign	not specified	2023-08-12	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003977715	SCV004786793	likely benign	TTN-related condition	2019-04-29	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).
Clinical Genetics, Academic Medical Center	RCV000429305	SCV001926217	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000727155	SCV001963492	likely benign	not provided		no assertion criteria provided	clinical testing