ClinVar Miner

Variants in gene PHOX2B

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Minimum submission review status: Collection method:
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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 risk factor not provided total
43 19 600 374 40 2 3 1024

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Hereditary cancer-predisposing syndrome 23 6 363 269 11 0 0 669
Haddad syndrome 11 2 371 251 7 0 0 642
Neuroblastoma, susceptibility to, 2 1 2 76 2 20 2 0 103
not provided 7 3 66 13 15 0 0 101
Congenital central hypoventilation 8 3 31 7 21 0 0 68
PHOX2B-related disorder 4 2 9 2 0 0 0 17
Neuroblastoma, susceptibility to, 2; Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease 2 0 9 1 0 0 0 12
not specified 0 0 0 6 6 0 3 12
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease 1 2 0 0 5 0 0 8
Neuroblastoma 0 0 1 2 1 0 0 4
Congenital central hypoventilation; Neuroblastoma, susceptibility to, 2 0 0 2 0 0 0 0 2
Hirschsprung disease-ganglioneuroblastoma syndrome 2 0 0 0 0 0 0 2
Congenital central hypoventilation syndrome, with or without Hirschsprung disease 0 1 0 0 0 0 0 1
Hirschsprung disease 0 1 0 0 0 0 0 1
Ovarian cancer 0 0 0 0 1 0 0 1
Predisposition to neuroblastoma 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Ambry Genetics 23 6 358 268 11 0 0 666
Labcorp Genetics (formerly Invitae), Labcorp 10 2 371 252 7 0 0 642
GeneDx 3 3 54 8 7 0 0 75
Baylor Genetics 2 2 49 0 0 0 0 53
Illumina Laboratory Services, Illumina 0 0 29 7 21 0 0 53
PreventionGenetics, part of Exact Sciences 4 2 9 4 4 0 0 23
Sema4, Sema4 0 0 8 8 1 0 0 17
Breakthrough Genomics, Breakthrough Genomics 0 0 0 4 10 0 0 14
Fulgent Genetics, Fulgent Genetics 0 0 11 1 0 0 0 12
CeGaT Center for Human Genetics Tuebingen 0 0 1 6 4 0 0 11
OMIM 7 0 0 0 0 2 0 9
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 0 2 6 0 0 8
Revvity Omics, Revvity 1 0 5 0 0 0 0 6
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 0 6 0 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 4 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 1 2 0 0 4
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 4 0 0 0 0 4
ITMI 0 0 0 0 0 0 3 3
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 3 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 0 0 0 1 1 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 0 0 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 1 1 0 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 0 0 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 1 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 0 2
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 1 1 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 1 0 0 0 2
Eurofins Ntd Llc (ga) 0 0 0 0 1 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 0 1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 1 0 0 0 0 0 0 1
Human Genomics Unit, Institute for molecular medicine Finland (FIMM) 0 1 0 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 0 1
Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan 0 1 0 0 0 0 0 1
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 0 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 0 1
3billion 0 1 0 0 0 0 0 1
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 0 0 0 1 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 0 1

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