ClinVar Miner

Submissions for variant NM_133379.5(TTN):c.16321C>T (p.Arg5441Ter)

gnomAD frequency: 0.00003  dbSNP: rs201273719
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172422 SCV000051331 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Blueprint Genetics RCV000208395 SCV000264279 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2015-12-03 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000172422 SCV000706078 uncertain significance not provided 2017-02-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485112 SCV002786031 uncertain significance 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 2021-09-22 criteria provided, single submitter clinical testing

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