ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.26762-39TTTGT[11] (rs71393436)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082382 SCV000114362 uncertain significance not provided 2013-07-23 no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000294362 SCV000423962 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000351592 SCV000423963 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000389782 SCV000423964 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000288449 SCV000423965 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000345633 SCV000423966 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000404803 SCV000423967 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000233459 SCV000286543 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-08-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare 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).

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