ClinVar Miner

Submissions for variant NM_001278116.2(L1CAM):c.3406G>A (p.Val1136Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003457628 SCV004184956 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing L1CAM: BP4, BS2
Labcorp Genetics (formerly Invitae), Labcorp RCV003588921 SCV004316951 benign Spastic paraplegia 2023-09-27 criteria provided, single submitter clinical testing

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