ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2836A>G (p.Arg946Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Institute, Tel Aviv Sourasky Medical Center RCV001391276 SCV001593227 likely pathogenic Dysplastic corpus callosum 2021-05-12 criteria provided, single submitter clinical testing

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