ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.3179T>C (p.Leu1060Ser)

dbSNP: rs1555408819
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Inherited Neuropathy Consortium RCV000789097 SCV000928448 uncertain significance Hereditary motor neuron disease no assertion criteria provided literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV003447168 SCV004174792 uncertain significance Charcot-Marie-Tooth disease axonal type 2O 2016-01-06 no assertion criteria provided literature only

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