ClinVar Miner

Submissions for variant NM_000425.4(L1CAM):c.924C>T (p.Gly308=) (rs797044787)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724594 SCV000232550 likely pathogenic not provided 2015-02-10 criteria provided, single submitter clinical testing
OMIM RCV000180160 SCV000030905 pathogenic X-linked hydrocephalus syndrome 1998-06-01 no assertion criteria provided literature only

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