ClinVar Miner

Variants in gene ABCA3

See also:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
100 82 650 1094 121 42 1894

Condition and significance breakdown #

Total conditions: 36
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 69 30 224 1019 104 5 1413
Hereditary pulmonary alveolar proteinosis 22 10 328 186 27 0 573
Interstitial lung disease due to ABCA3 deficiency 29 58 202 30 31 0 328
not specified 0 0 41 12 14 0 63
ABCA3-related disorder 5 0 9 27 3 0 44
Interstitial lung disease 2 0 3 12 0 0 0 15
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 8 8
Ovarian serous cystadenocarcinoma 0 0 0 0 0 7 7
Lung cancer 0 0 0 0 0 5 5
Familial cancer of breast 0 0 0 0 0 4 4
Gastric cancer 0 0 0 0 0 3 3
Malignant tumor of urinary bladder 0 0 0 0 0 3 3
Melanoma 0 0 0 0 0 3 3
Sarcoma 0 0 0 0 0 3 3
See cases 1 0 2 0 0 0 3
Surfactant metabolism dysfunction, pulmonary, 1 1 1 1 0 0 0 3
Colon adenocarcinoma 0 0 0 0 0 2 2
Papillary renal cell carcinoma type 1 0 0 0 0 0 2 2
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
Abnormal pulmonary interstitial morphology 0 0 1 0 0 0 1
Acute myeloid leukemia 0 0 0 0 0 1 1
Bullous lung disease 0 0 1 0 0 0 1
Cervical cancer 0 0 0 0 0 1 1
Cholangiocarcinoma 0 0 0 0 0 1 1
Chromosome 22q11.2 deletion syndrome, distal 0 0 1 0 0 0 1
Clear cell carcinoma of kidney 0 0 0 0 0 1 1
Congenital hyperammonemia, type I 0 1 0 0 0 0 1
Disorder of lung 0 0 1 0 0 0 1
Loeys-Dietz syndrome 0 1 0 0 0 0 1
Malignant tumor of esophagus 0 0 0 0 0 1 1
Pancreatic adenocarcinoma 0 0 0 0 0 1 1
Prostate cancer 0 0 1 0 0 0 1
Respiratory failure 0 0 1 0 0 0 1
Squamous cell lung carcinoma 0 0 0 0 0 1 1
Uterine carcinosarcoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 64
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 69 22 166 963 57 0 1277
Ambry Genetics 22 9 328 186 27 0 572
Illumina Laboratory Services, Illumina 1 0 152 15 21 0 189
GeneDx 2 7 55 47 52 0 163
Breakthrough Genomics, Breakthrough Genomics 0 0 6 21 33 0 60
Johns Hopkins Genomics, Johns Hopkins University 5 5 32 15 3 0 60
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 14 34 0 0 0 54
Fulgent Genetics, Fulgent Genetics 6 29 8 2 0 0 45
PreventionGenetics, part of Exact Sciences 5 0 9 27 3 0 44
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 37 37
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 3 8 8 13 0 33
CeGaT Center for Human Genetics Tuebingen 0 1 4 19 0 0 24
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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 1 2 1 0 0 7
OMIM 7 0 0 0 0 0 7
Genome-Nilou Lab 0 0 0 0 6 0 6
MVZ Martinsried, Medicover Genetics 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
Cole and Hamvas Lab, Washington University - St. Louis 0 0 0 0 0 5 5
Mayo Clinic Laboratories, Mayo Clinic 0 0 0 0 5 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 4 0 0 0 5
Baylor Genetics 1 0 3 0 0 0 4
Center for Personalized Medicine, Children's Hospital Los Angeles 1 2 1 0 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 3 1 0 0 0 4
Mendelics 2 0 0 0 2 0 4
Genetics and Molecular Pathology, SA Pathology 0 0 2 1 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 2 0 0 0 3
Myriad Genetics, Inc. 0 3 0 0 0 0 3
3billion 0 1 1 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 0 1 0 0 2
Centre of Medical Genetics, University Hospital Muenster 0 0 2 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 1 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 1 0 1 0 0 0 2
Department of Human Genetics, Hannover Medical School 0 1 1 0 0 0 2
Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital 1 1 0 0 0 0 2
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 1 0 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 2 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 2 0 0 0 0 2
Otogenetics 1 1 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 0 1
AiLife Diagnostics, AiLife Diagnostics 0 1 0 0 0 0 1
Athena Diagnostics 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 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
Dasa 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 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
Genoks Genetic Disorders Diagnostic Laboratory 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 0 1 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Institute of Human Genetics, Medical University Innsbruck 0 1 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 1 0 0 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 1 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.