ClinVar Miner

Submissions for variant NM_001278116.2(L1CAM):c.3020G>A (p.Arg1007Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV003328521 SCV004035212 uncertain significance not provided 2018-07-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003750962 SCV004396612 likely benign Spastic paraplegia 2024-06-29 criteria provided, single submitter clinical testing

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