ClinVar Miner

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

dbSNP: rs71393436
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Total submissions: 13
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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).
Invitae 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

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