ClinVar Miner

Variants in gene PIGO

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
32 18 330 131 26 2 505

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hyperphosphatasia with mental retardation syndrome 2 29 9 315 89 16 1 441
not provided 3 11 30 23 15 1 78
not specified 0 0 4 53 12 0 67
Hyperphosphatasia-intellectual disability syndrome 0 2 1 0 0 0 3
Hirschsprung disease; Hyperphosphatasia with mental retardation syndrome 2 0 0 1 0 0 0 1
Hyperphosphatasia with mental retardation syndrome 1 1 0 0 0 0 0 1
Intellectual disability 0 0 1 0 0 0 1
Seizures 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 25 3 276 90 12 0 406
GeneDx 0 11 25 56 20 0 112
Illumina Clinical Services Laboratory,Illumina 0 1 49 8 9 0 67
Athena Diagnostics Inc 0 0 4 2 8 0 14
PreventionGenetics, PreventionGenetics 0 0 0 2 7 0 9
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 0 2 0 2 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 3 2 0 0 5
Baylor Genetics 0 0 4 0 0 0 4
OMIM 3 0 0 0 0 0 3
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 2 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 1 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 0 1 0 1
Mendelics 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 0 1 0 0 0 1

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