ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11444A>C (p.Lys3815Thr)

dbSNP: rs1184657184
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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 RCV000626787 SCV000747490 uncertain significance Muscular dystrophy; Gait disturbance; EMG abnormality; Fatty replacement of skeletal muscle 2017-01-01 criteria provided, single submitter clinical testing

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