ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.22817-15T>G

gnomAD frequency: 0.00001  dbSNP: rs727504821
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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 RCV000156160 SCV000205876 uncertain significance not specified 2013-11-08 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The 19085-15T>G var iant in TTN has not been reported in individuals with cardiomyopathy and data fr om large population studies is insufficient to assess the frequency of this vari ant. This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing. However, this information is not predictive enou gh to rule out pathogenicity. Additional information is needed to fully assess t he clinical significance of the 19085-15T>G variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV002056114 SCV002403419 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-10-04 criteria provided, single submitter clinical testing

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