ClinVar Miner

Submissions for variant NM_004082.5(DCTN1):c.1712T>C (p.Met571Thr)

gnomAD frequency: 0.00001  dbSNP: rs121909343
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000008911 SCV000029121 risk factor Amyotrophic lateral sclerosis, susceptibility to 2004-08-24 no assertion criteria provided literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV003447081 SCV004174399 uncertain significance Perry syndrome 2016-01-06 no assertion criteria provided literature only

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