Submissions for variant NM_001267550.2(TTN):c.102561C>T (p.Tyr34187=)

gnomAD frequency: 0.00014  dbSNP: rs375625664

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000726013	SCV000341230	uncertain significance	not provided	2016-04-21	criteria provided, single submitter	clinical testing
GeneDx	RCV000726013	SCV000522934	likely benign	not provided	2021-05-20	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001086233	SCV001001666	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-18	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001798774	SCV002043111	likely benign	Cardiomyopathy	2020-01-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002392808	SCV002675153	benign	Cardiovascular phenotype	2021-03-27	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
Clinical Genetics, Academic Medical Center	RCV000313155	SCV001922617	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000726013	SCV001926852	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004535384	SCV004742362	likely benign	TTN-related disorder	2019-09-17	no assertion criteria provided	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).