ClinVar Miner

Submissions for variant NM_001365088.1(SLC12A6):c.2995_3004del (p.Gln999fs)

dbSNP: rs606231158
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV000005658 SCV002055392 likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy 2021-07-15 criteria provided, single submitter clinical testing
OMIM RCV000005658 SCV000025840 pathogenic Agenesis of the corpus callosum with peripheral neuropathy 2007-09-25 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000790221 SCV000929613 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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