Submissions for variant NM_001267550.2(TTN):c.32970_32987del (p.10987_10989EEY[1])

dbSNP: rs766756026

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000723868	SCV000225967	uncertain significance	not provided	2014-05-21	criteria provided, single submitter	clinical testing
Invitae	RCV000473326	SCV000542622	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2016-10-25	criteria provided, single submitter	clinical testing
GeneDx	RCV000723868	SCV000571803	likely benign	not provided	2020-08-20	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000723868	SCV000892603	uncertain significance	not provided	2023-12-01	criteria provided, single submitter	clinical testing	TTN: PM4
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000770063	SCV000901489	uncertain significance	Cardiomyopathy	2015-12-18	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000174635	SCV001433120	likely benign	not specified	2020-03-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003965259	SCV004785769	likely benign	TTN-related condition	2022-08-04	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).