ClinVar Miner

Submissions for variant NM_001278116.2(L1CAM):c.2698G>A (p.Gly900Arg)

gnomAD frequency: 0.00001  dbSNP: rs782097679
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517896 SCV000613955 uncertain significance not specified 2016-10-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000822372 SCV000963172 likely benign Spastic paraplegia 2023-06-05 criteria provided, single submitter clinical testing

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