ClinVar Miner

Submissions for variant NM_001278116.2(L1CAM):c.3015C>T (p.Ile1005=)

gnomAD frequency: 0.00002  dbSNP: rs202082978
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176264 SCV000227891 benign not specified 2015-02-27 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000176264 SCV000247789 uncertain significance not specified 2015-02-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000865607 SCV001006601 benign Spastic paraplegia 2024-01-28 criteria provided, single submitter clinical testing
GeneDx RCV001553154 SCV001773970 likely benign not provided 2019-02-06 criteria provided, single submitter clinical testing

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