ClinVar Miner

Submissions for variant NM_001365088.1(SLC12A6):c.619C>T (p.Arg207Cys) (rs121908429)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000005657 SCV000025839 pathogenic Agenesis of the corpus callosum with peripheral neuropathy 2011-08-12 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000790223 SCV000929615 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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