ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.12332A>G (p.Lys4111Arg)

dbSNP: rs1060499574
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Human Genetics, Children's Hospital of Philadelphia RCV000477878 SCV000536741 uncertain significance Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures; Charcot-Marie-Tooth disease axonal type 2O; Intellectual disability, autosomal dominant 13 2016-02-11 no assertion criteria provided research

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