ClinVar Miner

Submissions for variant NM_001278116.2(L1CAM):c.3271_3300del (p.Phe1091_Met1100del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004797477 SCV005417717 uncertain significance MASA syndrome; X-linked complicated corpus callosum dysgenesis; X-linked hydrocephalus syndrome criteria provided, single submitter clinical testing PM4+PM2_Supporting+PP4

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