ClinVar Miner

Submissions for variant NM_001278116.2(L1CAM):c.963C>T (p.Ala321=)

gnomAD frequency: 0.00021  dbSNP: rs145823218
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000284128 SCV000340826 uncertain significance not provided 2016-04-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002059214 SCV002460843 benign Spastic paraplegia 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003909995 SCV004727126 likely benign L1CAM-related disorder 2023-01-19 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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