ClinVar Miner

Submissions for variant NM_001278116.2(L1CAM):c.1379+3G>A

gnomAD frequency: 0.00002  dbSNP: rs782455321
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174003 SCV000225222 uncertain significance not provided 2014-06-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001512461 SCV001719886 benign Spastic paraplegia 2023-10-17 criteria provided, single submitter clinical testing

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