ClinVar Miner

Submissions for variant NM_001365088.1(SLC12A6):c.1118+1G>A (rs762730861)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412092 SCV000485376 likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy 2015-11-24 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001090728 SCV001246417 pathogenic not provided 2017-07-01 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000789681 SCV000929056 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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