ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.26201-11dup (rs727503644)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000152392 SCV000201371 uncertain significance not specified 2014-05-01 criteria provided, single submitter clinical testing The 22469-7_22469-6insT variant in TTN has not been previously reported in indiv iduals with cardiomyopathy. Data from large population studies is insufficient t o assess the frequency of this variant. This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing, though this i nformation is not predictive enough to rule out pathogenicity. In summary, the c linical significance of this variant is uncertain.
Invitae RCV000463344 SCV000555123 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-11 criteria provided, single submitter clinical testing
GeneDx RCV001704103 SCV000713974 likely benign not provided 2021-03-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000152392 SCV001158192 benign not specified 2019-03-01 criteria provided, single submitter clinical testing

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