ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.74567G>A (p.Trp24856Ter)

dbSNP: rs1057518851
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000414758 SCV000492738 pathogenic Myopathy 2014-06-29 criteria provided, single submitter clinical testing

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