ClinVar Miner

Variants in gene ALPL

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 not provided total
236 309 315 472 93 13 1175

Condition and significance breakdown #

Total conditions: 21
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 218 132 179 456 83 0 1005
Hypophosphatasia 61 86 80 25 29 12 273
Adult hypophosphatasia 73 78 13 1 18 0 175
Infantile hypophosphatasia 25 62 36 4 18 0 139
Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia 20 26 22 24 2 0 94
not specified 0 2 25 11 18 0 54
ALPL-related condition 15 7 7 16 0 0 45
Childhood hypophosphatasia 14 6 2 1 19 0 41
Osteogenesis imperfecta 6 5 9 5 3 0 28
Inborn genetic diseases 2 2 14 1 1 0 20
Low alkaline phosphatase 1 5 10 0 0 0 16
Odontohypophosphatasia 4 0 0 0 0 0 4
Micromelia 0 1 1 0 0 0 2
Perinatal lethal hypophosphatasia 2 0 0 0 0 0 2
Skeletal dysplasia 2 0 0 0 0 0 2
ALPL-related disorders 1 0 0 0 0 0 1
Connective tissue disorder 0 0 1 0 0 0 1
Delayed skeletal maturation 0 1 0 0 0 0 1
Hypophosphatemia 0 0 0 0 0 1 1
Microcephaly 0 0 1 0 0 0 1
Osteoporosis 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 78
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 216 106 125 417 26 0 890
GeneDx 28 11 38 41 63 0 181
Baylor Genetics 66 69 2 0 0 0 136
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 41 25 22 3 4 0 95
Counsyl 4 52 35 3 0 0 94
JKU Lab, Dept of Paediatrics, Johannes Kepler University 10 53 24 1 1 0 89
Natera, Inc. 26 4 32 13 12 0 87
Fulgent Genetics, Fulgent Genetics 19 16 21 24 2 0 82
Illumina Laboratory Services, Illumina 5 1 25 15 25 0 71
PreventionGenetics, part of Exact Sciences 15 7 7 19 12 0 60
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 6 6 6 7 9 0 34
Genome Diagnostics Laboratory, The Hospital for Sick Children 6 5 10 5 3 0 29
Eurofins Ntd Llc (ga) 6 3 12 0 8 0 29
CeGaT Center for Human Genetics Tuebingen 4 7 7 3 4 0 25
Genome-Nilou Lab 0 2 3 1 19 0 25
OMIM 23 0 0 0 0 0 23
Ambry Genetics 2 2 14 1 1 0 20
Athena Diagnostics Inc 0 4 4 1 9 0 18
Institute of Human Genetics, University of Wuerzburg 1 5 10 0 0 0 16
Myriad Genetics, Inc. 4 11 1 0 0 0 16
Revvity Omics, Revvity 8 2 5 0 0 0 15
Genome Diagnostics Laboratory, Amsterdam University Medical Center 2 0 0 0 10 0 12
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 1 0 0 9 0 11
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 6 1 0 1 1 0 9
Institute of Human Genetics, University of Leipzig Medical Center 3 3 3 0 0 0 9
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 3 6 0 0 0 0 9
GeneReviews 0 0 0 0 0 8 8
Blueprint Genetics 4 2 1 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 4 1 0 0 0 6
Genetic Services Laboratory, University of Chicago 0 0 3 2 0 0 5
MGZ Medical Genetics Center 1 3 1 0 0 0 5
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 4 1 0 0 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 4 0 5
Gharavi Laboratory, Columbia University 0 0 5 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 3 0 0 0 0 5
Genetics and Molecular Pathology, SA Pathology 3 1 0 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 1 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 2 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 1 1 0 3
Undiagnosed Diseases Network, NIH 2 0 1 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 1 0 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 1 1 0 0 3
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 3 0 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 3 0 0 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
MVZ Dr. Eberhard & Partner Dortmund 0 1 1 0 0 0 2
Mendelics 2 0 0 0 0 0 2
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 2 0 0 0 0 0 2
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Center for Personalized Medicine, Children's Hospital Los Angeles 2 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
Children's Hospital of Soochow University, Soochow University 2 0 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 0 1 1 0 0 0 2
NxGen MDx 0 1 1 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 1 0 0 0 0 2
Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University 2 0 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 1 1 0 0 0 0 2
Molecular Genetics Laboratory, Biocruces Bizkaia Health Research Institute 0 1 1 0 0 0 2
DASA 2 0 0 0 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 2 0 0 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Pediatric Metabolic Diseases, Hacettepe University 0 0 1 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1

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