ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.33172+4G>A (rs756475184)

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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 RCV000216928 SCV000272629 uncertain significance not specified 2015-12-23 criteria provided, single submitter clinical testing The c.29440+4G>A variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 0.1% (9/9784) African chromosome s by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Th is variant is located in the 5' splice region. Computational tools do not sugges t an impact to splicing. However, this information is not predictive enough to r ule out pathogenicity. In summary, the clinical significance of the c.29440+4G>A variant is uncertain.
GeneDx RCV000733836 SCV000730356 likely benign not provided 2020-10-09 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000733836 SCV000861937 uncertain significance not provided 2018-06-20 criteria provided, single submitter clinical testing

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