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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 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
Labcorp Genetics (formerly Invitae), Labcorp RCV003588586 SCV004269914 benign Spastic paraplegia 2024-01-10 criteria provided, single submitter clinical testing

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