ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.39548-8A>G

gnomAD frequency: 0.00019  dbSNP: rs369594816
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723598 SCV000114382 uncertain significance not provided 2013-03-12 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000152361 SCV000201281 uncertain significance not specified 2013-05-03 criteria provided, single submitter clinical testing The 32246-8A>G variant in TTN has not been reported in individuals with cardiomy opathy, but has been identified in 3/3650 African American chromosomes by the NH LBI 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 information is not predictive enough to rule out pa thogenicity. Additional studies are needed to fully assess its clinical signifi cance.
GeneDx RCV000723598 SCV000715467 likely benign not provided 2020-10-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001089077 SCV001007191 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-11-30 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000152361 SCV002041813 uncertain significance not specified 2021-11-15 criteria provided, single submitter clinical testing

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