ClinVar Miner

Submissions for variant NM_001278116.2(L1CAM):c.2380C>T (p.Gln794Ter) (rs875989884)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000211546 SCV000268523 pathogenic X-linked hydrocephalus syndrome 2016-04-05 criteria provided, single submitter clinical testing The L1CAM pathogenic mutation was observed in a patient with hydrocephalus due to aqueductal stenosis.

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