ClinVar Miner

Submissions for variant NM_001278116.2(L1CAM):c.3057T>G (p.Asp1019Glu)

gnomAD frequency: 0.00012  dbSNP: rs200815347
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001088727 SCV001001466 benign Spastic paraplegia 2024-01-21 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000861212 SCV001144423 uncertain significance not provided 2019-01-28 criteria provided, single submitter clinical testing

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