ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.1700G>A (p.Arg567His)

dbSNP: rs587781253
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust RCV000144880 SCV000172152 likely pathogenic Charcot-Marie-Tooth disease 2013-11-01 no assertion criteria provided research
Inherited Neuropathy Consortium Ii, University Of Miami RCV003447116 SCV004174799 uncertain significance Charcot-Marie-Tooth disease axonal type 2O 2016-01-06 no assertion criteria provided literature only

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