ClinVar Miner

Variants studied for pneumonia

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 association risk factor not provided total
254 124 2550 3224 208 4 1 12 6333

Gene and significance breakdown #

Total genes and gene combinations: 40
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
RTEL1, RTEL1-TNFRSF6B 119 56 1000 1642 101 0 0 0 2901
TERT 75 33 1068 1183 49 1 0 7 2398
PARN 30 23 330 281 25 0 0 1 686
LOC110806263, TERT 9 1 85 99 3 0 0 4 199
SFTPC 0 1 8 12 13 0 0 0 33
RTEL1 9 5 5 0 0 0 0 0 19
ABCA3 0 3 12 0 0 0 0 0 15
SFTPA2 5 2 4 0 4 0 0 0 15
MUC5B 0 0 7 4 2 0 1 0 14
BMP1, SFTPC 0 0 0 1 8 0 0 0 9
BMP1, LOC129999976, SFTPC 0 0 1 1 2 0 0 0 4
NKX2-1, SFTA3 0 0 4 0 0 0 0 0 4
AHRR, BRD9, CEP72, EXOC3, NKD2, PDCD6, SDHA, SLC12A7, SLC6A18, SLC6A19, SLC9A3, TERT, TPPP, TRIP13, ZDHHC11, ZDHHC11B 2 0 1 0 0 0 0 0 3
LOC110806263, LOC110806264, LOC123493259, TERT 0 0 3 0 0 0 0 0 3
RTEL1, TNFRSF6B 1 0 2 0 0 0 0 0 3
LOC110806264, TERT 0 0 0 1 1 0 0 0 2
TOLLIP 0 0 2 0 0 1 0 0 2
BRD9, CEP72, CLPTM1L, IRX4, LPCAT1, MRPL36, NDUFS6, NKD2, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, TERT, TPPP, TRIP13, ZDHHC11, ZDHHC11B 1 0 0 0 0 0 0 0 1
CHRNA4, EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, PPDPF, PTK6, RTEL1, SRMS, STMN3 0 0 1 0 0 0 0 0 1
CHRNA4, EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, PPDPF, PTK6, RTEL1, SRMS, STMN3, TNFRSF6B 1 0 0 0 0 0 0 0 1
CLPTM1L, SLC6A18, SLC6A19, SLC6A3, TERT 0 0 1 0 0 0 0 0 1
CLPTM1L, SLC6A3, TERT 0 0 1 0 0 0 0 0 1
CLPTM1L, TERT 0 0 1 0 0 0 0 0 1
CTC1 0 0 1 0 0 0 0 0 1
DSP 0 0 0 0 0 1 0 0 1
DTNBP1 0 0 1 0 0 0 0 0 1
EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, PPDPF, PTK6, RTEL1, SRMS, STMN3 1 0 0 0 0 0 0 0 1
FAM13A 0 0 1 0 0 1 0 0 1
HPS4 0 0 1 0 0 0 0 0 1
IL1RN 0 0 1 0 0 0 0 0 1
LAMA3 0 0 1 0 0 0 0 0 1
LOC110806306, TERC 1 0 0 0 0 0 0 0 1
LOC128772425, LOC128772426, RTEL1, RTEL1-TNFRSF6B 0 0 1 0 0 0 0 0 1
MMP1 0 0 1 0 0 0 0 0 1
MMP19 0 0 1 0 0 0 0 0 1
NKD2, SLC12A7, SLC6A18, SLC6A19, TERT, TRIP13 0 0 1 0 0 0 0 0 1
NKX2-1 0 0 1 0 0 0 0 0 1
RTKN2 0 0 1 0 0 0 0 0 1
SFTPA1 0 0 1 0 0 0 0 0 1
SLC6A18, SLC6A19, TERT 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 230 102 2469 3204 167 0 0 0 6172
Fulgent Genetics, Fulgent Genetics 2 5 46 11 3 0 0 0 67
Illumina Laboratory Services, Illumina 0 0 8 15 23 0 0 0 46
Johns Hopkins Genomics, Johns Hopkins University 3 1 23 1 0 0 0 0 28
Genome-Nilou Lab 0 0 0 2 26 0 0 0 28
Alder lab, University of Pittsburgh 1 3 20 0 0 0 0 0 24
OMIM 17 0 0 0 0 0 0 0 17
GeneReviews 3 0 0 0 0 0 0 10 13
Department of Respiratory and Critical Care Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology 2 2 8 0 0 0 0 0 12
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 2 9 0 0 0 0 0 11
Mendelics 0 1 4 2 2 0 0 0 9
University of Washington Center for Mendelian Genomics, University of Washington 9 0 0 0 0 0 0 0 9
Baylor Genetics 0 1 6 0 0 0 0 0 7
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas 0 0 3 0 0 4 0 0 5
Godley laboratory, The University of Chicago 2 2 1 0 0 0 0 0 5
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 3 0 0 0 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 2 2
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 0 0 2 0 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 0 0 1 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 0 0 1
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 0 0 1 0 0 0 0 0 1
Department of Medical Genomics, Royal Prince Alfred Hospital 0 0 1 0 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 0 0 1
Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania 0 1 0 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.