ClinVar Miner

Submissions for variant NM_001278116.2(L1CAM):c.1387G>A (p.Glu463Lys)

gnomAD frequency: 0.00002  dbSNP: rs202175564
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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 RCV000996047 SCV001150493 uncertain significance not provided 2018-05-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003750838 SCV004463285 benign Spastic paraplegia 2023-08-24 criteria provided, single submitter clinical testing

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