ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.22241-5T>C (rs397517501)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039967 SCV000063658 uncertain significance not specified 2012-05-01 criteria provided, single submitter clinical testing The 18509-5T>C variant (TTN) has not been reported in the literature nor previou sly identified by our laboratory. It was absent from >3,000 European American in dividuals sequenced by the NHLBI exome sequencing project (http://evs.gs.washing ton.edu/EVS). This low frequency is consistent with a disease causing role but i nsufficient to establish this with confidence. This variant is located in the 3 ' splice region. Computational tools do not predict altered splicing. However, t his information is not predictive enough to rule out pathogenicity. In summary, additional information is needed to fully assess the clinical significance of th e 18509-5T>C variant.
GeneDx RCV001719763 SCV000729552 likely benign not provided 2019-04-11 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24503780)
Invitae RCV001396572 SCV001598304 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-02-14 criteria provided, single submitter clinical testing

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