ClinVar Miner

Variants studied for L1 syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
18 1 4 0 0 23

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
L1CAM 18 1 4 23

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 14 0 0 14
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 0 2
Hehr Laboratory,Center for Human Genetics - University of Regensburg 0 0 1 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 0 1
Dobyns Lab,Seattle Children's Research Institute 1 0 0 1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 0 1 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 0 1 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 1

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