ClinVar Miner

Submissions for variant NM_001278116.2(L1CAM):c.3192G>A (p.Ser1064=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002633291 SCV003516091 likely benign Spastic paraplegia 2024-04-22 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV004790388 SCV005411486 uncertain significance not provided 2023-10-02 criteria provided, single submitter clinical testing

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