ClinVar Miner

Variants studied for obsolete adult hypophosphatasia

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 total
93 110 35 24 19 261

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ALPL 93 110 35 24 19 261

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Baylor Genetics 73 84 1 0 0 158
Fulgent Genetics, Fulgent Genetics 19 16 21 24 2 82
Genome-Nilou Lab 0 0 1 1 18 20
Myriad Genetics, Inc. 2 10 1 0 0 13
Institute of Human Genetics, University of Leipzig Medical Center 2 3 3 0 0 8
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 4 1 0 0 6
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 1 2 0 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 4 1 0 0 0 5
OMIM 4 0 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 3 0 0 0 0 3
Undiagnosed Diseases Network, NIH 2 0 1 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 0 0 2
MGZ Medical Genetics Center 0 1 1 0 0 2
Mendelics 2 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 1 0 0 0 2
Molecular Genetics Laboratory, Biocruces Bizkaia Health Research Institute 0 1 1 0 0 2
MVZ Medizinische Genetik Mainz 1 1 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 1
Pediatric Metabolic Diseases, Hacettepe University 0 0 1 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 1
NxGen MDx 0 0 1 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 1

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