ClinVar Miner

Submissions for variant NM_004082.4(DCTN1):c.3558G>A (p.Met1186Ile) (rs200834352)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000644479 SCV000766177 likely benign Amyotrophic lateral sclerosis type 1; Perry syndrome; Distal hereditary motor neuronopathy type 7B 2019-12-31 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV001027492 SCV001190067 likely pathogenic Charcot-Marie-Tooth disease no assertion criteria provided provider interpretation

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