ClinVar Miner

Variants studied for Hennekam lymphangiectasia-lymphedema syndrome 1

Coded as:
Minimum submission review status: Collection method:
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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 not provided total
7 4 165 23 52 5 245

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CCBE1 7 4 163 23 52 5 243
FAT4 0 0 2 0 0 0 2

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 150 19 46 0 215
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 3 3 0 7
Genome-Nilou Lab 0 0 0 0 7 0 7
OMIM 6 0 0 0 0 0 6
Fulgent Genetics, Fulgent Genetics 0 1 4 0 0 0 5
UniProtKB/Swiss-Prot 0 0 0 0 0 5 5
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 4 0 0 0 4
Baylor Genetics 0 0 3 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 2 1 0 0 0 3
Revvity Omics, Revvity 0 0 2 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
3billion 0 0 1 1 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 1

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