ClinVar Miner

Variants studied for ASAH1-related sphingolipidosis

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
38 46 75 18 42 5 204

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ASAH1 36 45 71 14 42 5 195
ASAH1, LOC129999940 1 1 4 4 0 0 8
ASAH1, LOC129999939, LOC129999940 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 1 0 53 5 24 0 83
Medical Affairs, Dicerna Pharmaceuticals 19 21 5 0 0 0 45
Genome-Nilou Lab 0 0 0 0 21 0 21
PreventionGenetics, part of Exact Sciences 1 7 0 11 2 0 21
Fulgent Genetics, Fulgent Genetics 0 3 9 2 1 0 15
OMIM 14 0 0 0 0 0 14
Baylor Genetics 0 0 6 0 0 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 6 0 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 3 0 2 0 0 0 5
GeneReviews 0 0 0 0 0 4 4
Variantyx, Inc. 2 2 0 0 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 2 0 0 0 3
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 2 0 0 0 3
3billion 2 0 0 0 0 0 2
Care4Rare-SOLVE, CHEO 0 0 2 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 2 0 0 0 0 2
Genetics laboratory, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences 0 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 0 0 0 0 2
MVZ Medizinische Genetik Mainz 0 2 0 0 0 0 2
Mendelics 0 0 0 0 2 0 2
Dr. Faghihi's Medical Genetic Center 0 1 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocio 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1

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