ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.791G>T (p.Arg264Leu)

dbSNP: rs713993043
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Neurogenomics lab, VIB Department of Molecular Genetics; University of Antwerp RCV000149554 SCV000191984 pathogenic Spinal muscular atrophy 2013-06-21 criteria provided, single submitter research absent in 179 ethnically matched controls
Inherited Neuropathy Consortium Ii, University Of Miami RCV003447119 SCV004174800 uncertain significance Charcot-Marie-Tooth disease axonal type 2O 2016-01-06 no assertion criteria provided literature only

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