ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.52406-6T>A

dbSNP: rs727504767
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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 RCV000156079 SCV000205792 uncertain significance not specified 2013-09-27 criteria provided, single submitter clinical testing The 44702-6T>A variant in TTN has not been previously reported in individuals wi th cardiomyopathy. Data from large population studies is insufficient to assess the frequency of this variant. This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing. However, this informa tion is not predictive enough to rule out pathogenicity. Additional information is needed to fully assess the clinical significance of the 44702-6T>A variant.
Invitae RCV001435686 SCV001638512 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2020-03-16 criteria provided, single submitter clinical testing

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