ClinVar Miner

Submissions for variant NM_001278116.2(L1CAM):c.3169G>A (p.Glu1057Lys)

gnomAD frequency: 0.00001  dbSNP: rs782180684
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848537 SCV002105412 uncertain significance Hereditary spastic paraplegia 2019-04-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003588776 SCV004333841 benign Spastic paraplegia 2024-01-07 criteria provided, single submitter clinical testing

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