ClinVar Miner

Variants in gene ALPL

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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
33 69 90 27 24 1 214

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Infantile hypophosphatasia 20 55 36 3 0 0 109
Hypophosphatasia 10 4 17 19 10 1 59
not provided 11 10 26 2 10 0 56
not specified 0 0 4 6 15 0 23
Low alkaline phosphatase 1 5 9 0 0 0 15
Childhood hypophosphatasia 8 1 1 0 0 0 9
Adult hypophosphatasia 6 1 0 0 0 0 7
Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia 5 2 0 0 0 0 7
Odontohypophosphatasia 3 0 0 0 0 0 3
Hypophosphatasia, perinatal lethal 2 0 0 0 0 0 2
Inborn genetic diseases 0 0 2 0 0 0 2
Skeletal dysplasia 2 0 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 4 53 35 3 0 0 95
Illumina Clinical Services Laboratory,Illumina 5 0 17 19 8 0 49
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 6 3 12 0 8 0 29
OMIM 23 0 0 0 0 0 23
GeneDx 3 4 9 2 0 0 18
PreventionGenetics 0 0 0 4 12 0 16
Institute of Human Genetics,University of Wuerzburg 1 5 9 0 0 0 15
Integrated Genetics/Laboratory Corporation of America 5 4 2 0 2 0 13
Athena Diagnostics Inc 0 2 2 0 8 0 12
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 6 1 0 1 1 0 9
GeneReviews 5 0 0 0 3 0 8
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 1 1 4 0 7
Fulgent Genetics 5 2 0 0 0 0 7
Gharavi Laboratory,Columbia University 0 0 5 0 0 0 5
Genetic Services Laboratory, University of Chicago 0 0 3 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 1 0 0 0 0 3
Ambry Genetics 0 0 2 0 0 0 2
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 2 0 0 0 0 0 2
Children's Hospital of Soochow University,Soochow University 2 0 0 0 0 0 2
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 1 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 1 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 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
CeGaT Praxis fuer Humangenetik Tuebingen 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

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