ClinVar Miner

Variants studied for pneumonitis

Included ClinVar conditions (10):
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
271 131 2557 3224 208 4 1 13 6362

Gene and significance breakdown #

Total genes and gene combinations: 41
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
RTEL1, RTEL1-TNFRSF6B 121 56 1000 1642 101 0 0 0 2902
TERT 75 33 1068 1183 49 1 0 7 2398
PARN 31 23 331 281 25 0 0 1 688
LOC110806263, TERT 9 1 85 99 3 0 0 4 199
SFTPC 0 1 8 12 13 0 0 0 33
SLC27A4 14 6 5 0 0 0 0 1 25
RTEL1 9 5 5 0 0 0 0 0 19
ABCA3 0 3 12 0 0 0 0 0 15
MUC5B 0 0 8 4 2 0 1 0 15
SFTPA2 5 3 4 0 4 0 0 0 15
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: 38
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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
OMIM 28 0 0 0 0 0 0 0 28
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
GeneReviews 3 0 0 0 0 0 0 10 13
Mendelics 2 2 4 2 2 0 0 0 12
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
University of Washington Center for Mendelian Genomics, University of Washington 9 0 0 0 0 0 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 1 2 0 0 0 0 0 8
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
Neuberg Centre For Genomic Medicine, NCGM 0 0 4 0 0 0 0 0 4
Revvity Omics, Revvity 1 0 2 0 0 0 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 3 0 0 0 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 0 0 0 0 0 2
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 2 0 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 0 0 1 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
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 0 1 1
Juno Genomics, Hangzhou Juno Genomics, Inc 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
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 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
Royal Medical Services, Bahrain Defence Force Hospital 0 0 1 0 0 0 0 0 1

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