ClinVar Miner

Submissions for variant NM_001278116.2(L1CAM):c.1570C>T (p.Pro524Ser) (rs1569544754)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hehr Laboratory,Center for Human Genetics - University of Regensburg RCV000681474 SCV000808924 uncertain significance X-linked hydrocephalus syndrome 2016-11-17 no assertion criteria provided clinical testing

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