Submissions for variant NM_001267550.2(TTN):c.49649-11T>C

gnomAD frequency: 0.00005  dbSNP: rs727504474

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155602	SCV000205310	uncertain significance	not specified	2013-04-02	criteria provided, single submitter	clinical testing	The 41945-11T>C variant in TTN has been identified by our laboratory in 1 infant with DCM (LMM unpublished data). This variant has not been identified in large European American and African American populations by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/), though it may be present in other populations. It is located in the 3' splice region. Computational tools do not s uggest an impact to splicing, though this information is not predictive enough t o rule out pathogenicity. Additional information is needed to fully assess the c linical significance of this variant.
GeneDx	RCV001697150	SCV000725615	likely benign	not provided	2019-06-18	criteria provided, single submitter	clinical testing
Invitae	RCV002056092	SCV002397254	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2023-12-13	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000155602	SCV001921283	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001697150	SCV001929529	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001697150	SCV001960116	likely benign	not provided		no assertion criteria provided	clinical testing