ClinVar Miner

Submissions for variant NM_001278116.2(L1CAM):c.2872+9G>A

gnomAD frequency: 0.00005  dbSNP: rs398123363
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723569 SCV000110595 uncertain significance not provided 2013-01-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000194623 SCV000247788 uncertain significance not specified 2014-12-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003750777 SCV004549972 likely benign Spastic paraplegia 2024-01-04 criteria provided, single submitter clinical testing

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