Submissions for variant NM_001267550.2(TTN):c.40408+7_40408+10dup

gnomAD frequency: 0.00001  dbSNP: rs397517560

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000040204	SCV000063895	likely benign	not specified	2012-04-13	criteria provided, single submitter	clinical testing	32704+7_32704+10dupAATG in intron 166 of TTN: This variant is not expected to ha ve clinical significance because it is not located within the splice consensus s equence. 32704+7_32704+10dupAATG in intron 166 of TTN (allele frequency = n/a)
PreventionGenetics, part of Exact Sciences	RCV000040204	SCV000315482	likely benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000040204	SCV000345545	likely benign	not specified	2016-09-13	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000398919	SCV000423469	uncertain significance	Limb-Girdle Muscular Dystrophy, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000306130	SCV000423470	uncertain significance	Tibial muscular dystrophy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000339964	SCV000423471	uncertain significance	Myopathy, myofibrillar, 9, with early respiratory failure	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000390916	SCV000423472	uncertain significance	Early-onset myopathy with fatal cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000309870	SCV000423473	uncertain significance	Dilated Cardiomyopathy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000362130	SCV000423474	uncertain significance	Hypertrophic cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000770045	SCV000901471	benign	Cardiomyopathy	2018-07-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001529184	SCV001756561	likely benign	not provided	2016-10-19	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24503780)
Invitae	RCV002054790	SCV002373533	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-22	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529184	SCV001742220	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001529184	SCV001964522	likely benign	not provided		no assertion criteria provided	clinical testing