ClinVar Miner

Variants studied for pulmonary alveolar proteinosis

Included ClinVar conditions (11):
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
105 68 1062 586 155 1 1882

Gene and significance breakdown #

Total genes and gene combinations: 18
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MARS1 6 4 363 213 29 0 610
ABCA3 33 26 386 153 36 0 580
CSF2RA 17 4 143 136 24 1 324
SFTPB 11 5 78 44 20 0 144
SFTPC 13 12 37 25 19 0 90
NBAS 22 15 13 1 14 0 60
ARHGAP9, MARS1 0 0 17 8 1 0 26
CSF2RB 2 0 12 1 0 0 15
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
DES 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 57
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 14 4 519 362 53 0 952
Ambry Genetics 29 17 291 177 32 0 546
Illumina Laboratory Services, Illumina 2 0 207 38 59 0 306
Johns Hopkins Genomics, Johns Hopkins University 8 6 43 22 6 0 85
OMIM 36 0 0 0 0 0 36
Genome-Nilou Lab 0 0 0 0 27 0 27
Revvity Omics, Revvity 4 3 15 1 0 0 23
Baylor Genetics 6 2 13 0 0 0 21
Mendelics 7 4 2 1 2 0 16
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 2 6 0 0 0 13
Fulgent Genetics, Fulgent Genetics 0 0 11 2 0 0 13
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 7 0 0 0 0 10
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 2 2 5 0 0 0 9
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 1 3 1 0 0 8
3billion 1 2 2 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 2 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 0 1 2 1 0 0 4
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 1 2 0 0 0 4
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 1 3 0 0 0 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 0 0 0 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
Laboratory of Medical Genetics, University of Torino 3 0 0 0 0 0 3
Brain and Mitochondrial Research, Murdoch Children's Research Insitute 2 1 0 0 0 0 3
Department of Human Genetics, Hannover Medical School 0 1 2 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 0 2
Undiagnosed Diseases Network, NIH 0 1 1 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 0 2
Laboratory of Jean-Laurent Casanova, The Rockefeller University 2 0 0 0 0 0 2
Center for Personalized Medicine, Children's Hospital Los Angeles 0 1 1 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
Kids Research, The Children's Hospital at Westmead 0 2 0 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 1 0 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 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, Cologne University 0 1 0 0 0 0 1
Institute of Human Genetics, Medical University Innsbruck 0 1 0 0 0 0 1
CHU Sainte-Justine Research Center, University of Montreal 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
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Reutter Lab, Institute of Human Genetics, University Hospital Bonn 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
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
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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