ClinVar Miner

Variants studied for Hennekam lymphangiectasia-lymphedema syndrome 2

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 not provided total
6 0 44 6 17 2 75

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic uncertain significance likely benign benign not provided total
FAT4 6 44 6 17 2 75

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic uncertain significance likely benign benign not provided total
Clinical Genomics Laboratory, Washington University in St. Louis 0 16 0 0 0 16
Genome-Nilou Lab 0 0 0 15 0 15
Baylor Genetics 0 13 0 0 0 13
Fulgent Genetics, Fulgent Genetics 0 4 5 2 0 11
OMIM 5 0 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 5 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 0 0 0 2
Molecular Genetics Lab, CHRU Brest 0 2 0 0 0 2
Institute of Human Genetics, University of Goettingen 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 1
GenomeConnect, ClinGen 0 0 0 0 1 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 1 1

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