ClinVar Miner

Variants studied for aminoacylase 1 deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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Gene type:
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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 total
9 6 22 0 0 34

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
ABHD14A-ACY1, ACY1 9 4 22 32
ACTB 0 1 0 1
ZNF335 0 1 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 7 0 0 7
Baylor Genetics 0 0 6 6
Fulgent Genetics, Fulgent Genetics 1 1 4 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 2 0 4
Elsea Laboratory, Baylor College of Medicine 1 0 2 3
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 3 3
Mendelics 0 0 2 2
Daryl Scott Lab, Baylor College of Medicine 0 1 1 2
Medical Genetics Laboratory, Tarbiat Modares University 0 2 0 2
Institute of Human Genetics, University Hospital Muenster 0 0 2 2
New York Genome Center 0 1 1 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 2
MGZ Medical Genetics Center 0 0 1 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 1
Lifecell International Pvt. Ltd 1 0 0 1
WangQJ Lab, Chinese People's Liberation Army General Hospital 0 0 1 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 1

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