ClinVar Miner

Submissions for variant NM_001278116.2(L1CAM):c.1615T>G (p.Cys539Gly)

dbSNP: rs886041102
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Praenatalmedizin und Genetik Nuernberg RCV000258946 SCV000328935 likely pathogenic X-linked hydrocephalus syndrome 2016-04-01 no assertion criteria provided clinical testing Multiple in silico analyses with pathogenic consent

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