ClinVar Miner

Submissions for variant NM_153741.2(DPM3):c.137T>A (p.Leu46Gln)

dbSNP: rs1057518905
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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 RCV000415253 SCV000492874 likely pathogenic Myopathy; Cardiomyopathy; EMG: myopathic abnormalities 2015-01-15 criteria provided, single submitter clinical testing

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