ClinVar Miner

Submissions for variant NM_001278116.2(L1CAM):c.2209-6C>T

gnomAD frequency: 0.05725  dbSNP: rs7885771
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078731 SCV000110591 benign not specified 2013-11-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000078731 SCV000193490 benign not specified 2013-08-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000078731 SCV000304107 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000471972 SCV000554209 benign Spastic paraplegia 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001689622 SCV001909785 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847648 SCV002105400 benign Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001689622 SCV005274966 benign not provided criteria provided, single submitter not provided

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