ClinVar Miner

Variants studied for hereditary pulmonary alveolar proteinosis

Included ClinVar conditions (9):
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
90 82 1160 679 142 1 2052

Gene and significance breakdown #

Total genes and gene combinations: 17
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MARS1 5 4 410 265 29 0 707
ABCA3 39 55 431 165 36 0 664
CSF2RA 18 4 144 158 25 1 349
SFTPB 11 5 88 47 20 0 156
SFTPC 13 12 43 27 19 0 96
ARHGAP9, MARS1 0 0 19 11 1 0 31
CSF2RB 2 0 13 1 0 0 16
ABCA3, LOC130058230 0 0 6 0 3 0 9
BMP1, SFTPC 0 0 0 0 9 0 9
MARS1, MIR6758 0 0 2 5 0 0 7
FARSB 0 2 0 0 0 0 2
AGAP2, APOF, ARHGAP9, ARHGEF25, ATP5F1B, B4GALNT1, BAZ2A, CDK4, CYP27B1, DCTN2, DDIT3, DTX3, EEF1AKMT3, GLI1, GLS2, GPR182, HSD17B6, IL23A, INHBC, INHBE, KIF5A, LRP1, MARCHF9, MARS1, MBD6, METTL1, MIP, MIR616, MYO1A, NAB2, NACA, NDUFA4L2, NEMP1, NXPH4, OS9, PAN2, PIP4K2C, PRIM1, PTGES3, R3HDM2, RBMS2, RDH16, SDR9C7, SHMT2, SPRYD4, STAC3, STAT2, STAT6, TAC3, TIMELESS, TSFM, TSPAN31, ZBTB39 0 0 1 0 0 0 1
BMP1, LOC129999976, SFTPC 0 0 1 0 0 0 1
CSF2RA, MIR3690 1 0 0 0 0 0 1
CSF2RB, LOC126863140 0 0 1 0 0 0 1
DCTN2, DDIT3, KIF5A, MARS1, MBD6, MIR616 0 0 1 0 0 0 1
F8 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 50
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 15 4 569 439 54 0 1081
Ambry Genetics 29 17 350 194 32 0 622
Illumina Laboratory Services, Illumina 2 0 205 38 59 0 304
Johns Hopkins Genomics, Johns Hopkins University 8 6 43 22 6 0 85
Fulgent Genetics, Fulgent Genetics 7 29 12 2 0 0 50
OMIM 29 0 0 0 0 0 29
Revvity Omics, Revvity 4 3 15 1 0 0 23
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 10 0 0 0 0 15
Genome-Nilou Lab 0 0 0 0 13 0 13
Baylor Genetics 4 0 8 0 0 0 12
Mendelics 7 0 2 0 2 0 11
Department of Pathology and Laboratory Medicine, Sinai Health System 0 4 6 1 0 0 11
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 10 0 0 0 10
Neuberg Centre For Genomic Medicine, NCGM 1 3 4 0 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 5 0 0 0 7
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 0 2 1 0 0 6
3billion 1 2 2 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 2 0 0 0 4
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 1 2 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 0 0 2 1 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 1 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 0 3
Department of Human Genetics, Hannover Medical School 0 1 2 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 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
Antonellis Laboratory at Michigan, University of Michigan 0 2 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 2
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 0 2 0 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 1 0 1 0 0 0 2
Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital 1 1 0 0 0 0 2
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
Institute of Human Genetics, Medical University Innsbruck 0 1 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
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Department of Medical Genomics, Royal Prince Alfred Hospital 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 0 0 0 1
New York Genome Center 0 1 0 0 0 0 1
Genoks Genetic Disorders Diagnostic Laboratory 0 1 0 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 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

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. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.