Submissions for variant NM_001267550.2(TTN):c.26762-39TTTGT[11]

dbSNP: rs71393436

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000215574	SCV000269937	benign	not specified	2015-04-23	criteria provided, single submitter	clinical testing	c.23030-39_23030-35[11] in intron 89 of TTN: This variant is part of a 5 bp repe at (TTTGT) and adds 5 repeat units to 6 present in the reference sequence. It is not expected to have clinical significance because it has been identified in 13 .5% (73/540) of East Asian chromosomes and 4.2% (70/1672) of Finnish chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000233459	SCV000286543	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-02-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000294362	SCV000423962	uncertain significance	Early-onset myopathy with fatal cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000351592	SCV000423963	uncertain significance	Tibial muscular dystrophy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000389782	SCV000423964	uncertain significance	Hypertrophic cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000288449	SCV000423965	uncertain significance	Limb-girdle muscular dystrophy, recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000345633	SCV000423966	uncertain significance	Dilated Cardiomyopathy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000404803	SCV000423967	uncertain significance	Myopathy, myofibrillar, 9, with early respiratory failure	2016-06-14	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000215574	SCV001338062	benign	not specified	2020-01-11	criteria provided, single submitter	clinical testing
GeneDx	RCV000082382	SCV001896162	benign	not provided	2018-05-21	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000082382	SCV000114362	uncertain significance	not provided	2013-07-23	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000215574	SCV002034534	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000082382	SCV002035339	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004529864	SCV004740663	benign	TTN-related disorder	2019-08-07	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).