ClinVar Miner

Submissions for variant NM_001005360.2(DNM2):c.1090C>T (p.Arg364Cys) (rs1568304333)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Miraca Genetics Laboratories, RCV000679962 SCV000807396 uncertain significance Myopathy, centronuclear, 1 2017-09-01 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory de novo in a 1-year-old female with arthrogryposis, developmental delay, hypotonia, dysmorphic features, epilepsy, tachycardia, respiratory distress, hyperextensibility. Similarly affected twin sib also had the mutation.

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