ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.89221dup (p.Ile29741fs)

dbSNP: rs1553543413
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Human Genetics, Children's Hospital of Philadelphia RCV000477931 SCV000536879 likely pathogenic Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2015-10-03 no assertion criteria provided research

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