ClinVar Miner

Submissions for variant NM_001365088.1(SLC12A6):c.901del (p.Ile301fs) (rs606231157)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000005656 SCV000025838 pathogenic Agenesis of the corpus callosum with peripheral neuropathy 2006-04-11 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000790224 SCV000929616 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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