ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.77561C>T (p.Thr25854Ile)

gnomAD frequency: 0.00001  dbSNP: rs886055245
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000318714 SCV000421687 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000368890 SCV000421688 uncertain significance Early-onset myopathy with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000274216 SCV000421689 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000334093 SCV000421690 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000388578 SCV000421691 uncertain significance Myopathy, myofibrillar, 9, with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000289633 SCV000421692 uncertain significance Tibial muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing

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