ClinVar Miner

Submissions for variant NM_001278116.2(L1CAM):c.1124-6_1124-3dup

gnomAD frequency: 0.00007  dbSNP: rs782713149
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre RCV000171448 SCV000221646 likely pathogenic not provided criteria provided, single submitter research
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003235090 SCV003934505 uncertain significance not specified 2023-05-04 criteria provided, single submitter clinical testing
Invitae RCV003588586 SCV004269914 benign Spastic paraplegia 2024-01-10 criteria provided, single submitter clinical testing

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