ClinVar Miner

Submissions for variant NM_001278116.2(L1CAM):c.3581C>T (p.Ser1194Leu) (rs137852522)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Reproductive Medicine, Peking University Third Hospital RCV001257378 SCV001433905 pathogenic Severe hydrocephalus; Hydrops fetalis 2019-10-16 criteria provided, single submitter clinical testing
OMIM RCV000010674 SCV000030900 pathogenic X-linked hydrocephalus syndrome 1994-12-01 no assertion criteria provided literature only
OMIM RCV000010675 SCV000030901 pathogenic MASA syndrome 1994-12-01 no assertion criteria provided literature only
GeneDx RCV000413812 SCV000490592 pathogenic not provided 2015-11-05 no assertion criteria provided clinical testing

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