ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.33911-7T>C

gnomAD frequency: 0.00001  dbSNP: rs397517545
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Total submissions: 2
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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 RCV000040166 SCV000063857 uncertain significance not specified 2012-04-13 criteria provided, single submitter clinical testing The 30179-7T>C variant (TTN) has not been reported in the literature nor previou sly identified by our laboratory. This variant is located in the 3' splice regi on. Computational tools do not predict altered splicing; however, this informati on is not predictive enough to rule out pathogenicity. Additional information is needed to fully assess the clinical significance of this variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV000643456 SCV000765143 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-27 criteria provided, single submitter clinical testing

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