ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.98603del (p.Phe32868fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004797029 SCV005417329 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 criteria provided, single submitter clinical testing PM2_Supporting+PVS1+PM3+PP1

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