ClinVar Miner

Variants in gene ABCA3

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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 not provided total
82 43 439 989 113 5 1517

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 55 21 114 934 101 5 1204
Hereditary pulmonary alveolar proteinosis 20 9 136 116 12 0 293
Interstitial lung disease due to ABCA3 deficiency 21 15 198 30 31 0 279
Inborn genetic diseases 0 0 48 4 0 0 52
not specified 0 0 19 12 13 0 41
ABCA3-related condition 5 0 7 24 3 0 39
Interstitial lung disease 2 0 3 12 0 0 0 15
Pulmonary Surfactant Metabolism Dysfunction, Recessive 0 0 4 0 0 0 4
See cases 1 1 2 0 0 0 4
Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies 1 1 0 0 0 0 2
Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies; Diffuse interstitial pulmonary fibrosis 0 2 0 0 0 0 2
Pulmonary arterial hypertension; Respiratory distress; Neonatal respiratory distress 0 1 1 0 0 0 2
Abnormal pulmonary interstitial morphology 0 0 1 0 0 0 1
Bullous lung disease 0 0 1 0 0 0 1
Chromosome 22q11.2 deletion syndrome, distal 0 0 1 0 0 0 1
Disorder of lung 0 0 1 0 0 0 1
Malignant tumor of prostate 0 0 1 0 0 0 1
Pulmonary arterial hypertension; Respiratory insufficiency; Pulmonary valve insufficiency 0 1 0 0 0 0 1
Pulmonary lymphangiectasia 0 0 1 0 0 0 1
Respiratory failure 0 0 1 0 0 0 1
Surfactant metabolism dysfunction, pulmonary, 1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 48
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 55 18 80 883 57 0 1093
Ambry Genetics 20 9 184 120 12 0 345
Illumina Laboratory Services, Illumina 1 0 158 15 21 0 195
GeneDx 2 2 29 46 52 0 131
Johns Hopkins Genomics, Johns Hopkins University 5 5 27 15 3 0 55
PreventionGenetics, part of Exact Sciences 5 0 7 24 3 0 39
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 3 8 8 13 0 33
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 4 12 0 0 0 19
CeGaT Center for Human Genetics Tuebingen 0 1 2 12 0 0 15
Revvity Omics, Revvity 2 2 10 0 0 0 14
Alder lab, University of Pittsburgh 0 1 12 0 0 0 13
Eurofins Ntd Llc (ga) 1 0 8 3 0 0 12
Fulgent Genetics, Fulgent Genetics 0 0 8 2 0 0 10
OMIM 7 0 0 0 0 0 7
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 6 0 0 0 6
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 5 0 0 0 6
Genome-Nilou Lab 0 0 0 0 6 0 6
Cole and Hamvas Lab, Washington University - St. Louis 0 0 0 0 0 5 5
Baylor Genetics 1 0 3 0 0 0 4
Mendelics 2 0 0 0 2 0 4
Center for Personalized Medicine, Children's Hospital Los Angeles 1 2 1 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 2 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 2 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 0 0 2 1 0 0 3
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 2 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 0 1 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 2
Clinical Genomics Program, Stanford Medicine 1 0 1 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 0 0 2 0 0 0 2
Department of Human Genetics, Hannover Medical School 0 1 1 0 0 0 2
Athena Diagnostics Inc 0 1 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 1 0 0 0 0 1
Genoks Genetic Disorders Diagnostic Laboratory 0 1 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1

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