ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.915-7dup

dbSNP: rs730880351
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Total submissions: 9
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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 RCV000155844 SCV000205555 uncertain significance not specified 2014-03-14 criteria provided, single submitter clinical testing The 915-4_915-3insT variant in TTN has not been reported in individuals with car diomyopathy, but has been identified in 2/8254 European American chromosomes and 1/4266 African American chromosomes by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS/). This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing. However, this informa tion is not predictive enough to rule out pathogenicity. In summary, additional information is needed to fully assess the clinical significance of the 915-4_915 -3insT variant.
Illumina Laboratory Services, Illumina RCV000406759 SCV000425324 uncertain significance Tibial muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000300592 SCV000425325 uncertain significance Myopathy, myofibrillar, 9, with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000355394 SCV000425326 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000274682 SCV000425327 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000315354 SCV000425328 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000370086 SCV000425329 uncertain significance Early-onset myopathy with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001444879 SCV001647895 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-12-22 criteria provided, single submitter clinical testing
GeneDx RCV001550105 SCV001770385 likely benign not provided 2018-11-05 criteria provided, single submitter clinical testing

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