ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.15497-8T>C (rs727505010)

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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 RCV000156433 SCV000206151 uncertain significance not specified 2014-03-18 criteria provided, single submitter clinical testing The 11765-8T>C variant in TTN has not been previously reported in individuals wi th cardiomyopathy and data from large population studies are insufficient to ass ess the frequency of this variant. This variant is located in the 3' splice regi on. Computational tools do not suggest an impact to splicing. However, this info rmation is not predictive enough to rule out pathogenicity. Additional informati on is needed to fully assess the clinical significance of the 11765-8T>C variant .
Invitae RCV000930409 SCV001076062 likely benign not provided 2018-06-11 criteria provided, single submitter clinical testing
Invitae RCV001456018 SCV001659793 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2018-06-09 criteria provided, single submitter clinical testing

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