ClinVar Miner

Submissions for variant NM_001278116.2(L1CAM):c.3192G>T (p.Ser1064=)

gnomAD frequency: 0.00028  dbSNP: rs142563956
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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) RCV000153429 SCV000202930 uncertain significance not provided 2014-02-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002516078 SCV001002504 benign Spastic paraplegia 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000153429 SCV004167171 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing L1CAM: BS2
PreventionGenetics, part of Exact Sciences RCV003975202 SCV004786966 likely benign L1CAM-related disorder 2021-09-07 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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