ClinVar Miner

Submissions for variant NM_001278116.2(L1CAM):c.386G>A (p.Arg129Gln)

gnomAD frequency: 0.00004  dbSNP: rs200809259
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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) RCV000178099 SCV000230094 uncertain significance not provided 2015-04-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001515064 SCV001723053 benign Spastic paraplegia 2022-07-25 criteria provided, single submitter clinical testing

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