ClinVar Miner

Variants studied for ASAH1-related sphingolipidosis

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
33 39 78 9 42 5 193

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 31 38 72 7 42 5 183
ASAH1, LOC129999940 1 1 6 2 0 0 9
ASAH1, LOC129999939, LOC129999940 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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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 19 21 5 0 0 0 45
Genome-Nilou Lab 0 0 0 0 21 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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 5 0 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 3 0 2 0 0 0 5
GeneReviews 0 0 0 0 0 4 4
Mendelics 0 0 0 0 2 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 2
Care4Rare-SOLVE, CHEO 0 0 2 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 0 0 0 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
Genetics laboratory, Department of Obstetrics & Gynae, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences 0 2 0 0 0 0 2
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
Dr. Faghihi's Medical Genetic Center 0 1 0 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
Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocio 1 0 0 0 0 0 1

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