ClinVar Miner

Submissions for variant NM_001278116.2(L1CAM):c.2137+5_2137+6insGGCAGGTGT

dbSNP: rs398123361
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078730 SCV000110590 uncertain significance not provided 2013-08-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001473187 SCV001677332 likely benign Spastic paraplegia 2024-02-17 criteria provided, single submitter clinical testing

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