ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.26762-39TTTGT[7] (rs71393436)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769908 SCV000901334 benign Cardiomyopathy 2016-10-07 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000040059 SCV000203730 benign not specified 2014-01-13 no assertion criteria provided clinical testing
GeneDx RCV000040059 SCV000236747 benign not specified 2014-08-21 criteria provided, single submitter clinical testing The variant is found in CARDIOMYOPATHY panel(s).
Genetic Services Laboratory, University of Chicago RCV000040059 SCV000249246 likely benign not specified 2015-03-23 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000373966 SCV000423944 likely benign Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000281725 SCV000423945 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000348484 SCV000423946 likely benign Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000406576 SCV000423947 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000313240 SCV000423948 likely benign Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000351759 SCV000423949 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000205385 SCV000262475 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2015-11-12 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040059 SCV000063750 benign not specified 2017-08-10 criteria provided, single submitter clinical testing c.23030-39TTTGT[7] in intron 89 of TTN: This variant is part of a 5-bp repeat ( TTTGT) and adds one repeat unit to the 6 present in the reference sequence. Alt hough this variant is located in the splice region, computational tools do not p redict an effect. This variant is not expected to have clinical significance bec ause similar variants within this repeat region have been identified in 0.4% ( 6 5/15162) of African chromosomes by the Genome Aggregation Database (gnomAD, http ://gnomad.broadinstitute.org; dbSNP rs79799565). Additionally, this variant has been identified in 231 individuals by our laboratory, at least 37 of which were found to have an alternate cause for disease.

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