ClinVar Miner

Variants studied for Farber lipogranulomatosis

Included ClinVar conditions (2):
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
22 34 73 9 42 4 178

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
ASAH1 22 33 67 7 42 4 169
ASAH1, LOC129999940 0 1 6 2 0 0 9

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 61 7 25 0 93
Medical Affairs, Dicerna Pharmaceuticals 12 20 5 0 0 0 37
Genome-Nilou Lab 0 0 0 0 21 0 21
Fulgent Genetics, Fulgent Genetics 0 3 9 2 1 0 15
OMIM 10 0 0 0 0 0 10
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 5 0 0 0 0 5
Baylor Genetics 0 0 3 0 0 0 3
GeneReviews 0 0 0 0 0 3 3
Neuberg Centre For Genomic Medicine, NCGM 2 0 1 0 0 0 3
Mendelics 0 0 0 0 2 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 2 0 0 0 0 2
MVZ Medizinische Genetik Mainz 0 2 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1

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