ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.31426+11T>C

gnomAD frequency: 0.00001  dbSNP: rs901251232
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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 RCV000616244 SCV000712244 likely benign not specified 2016-06-16 criteria provided, single submitter clinical testing c.27694+11T>C in intron 114 of TTN: This variant is not expected to have clinica l significance because a T>C change at this position does not diverge from the s plice consensus sequence and is therefore unlikely to impact splicing.
Invitae RCV002531140 SCV003470250 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-10-30 criteria provided, single submitter clinical testing

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