ClinVar Miner

Variants studied for pulmonary fibrosis and/or bone marrow failure, telomere-related

Included ClinVar conditions (15):
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
196 103 1405 1945 165 1 3788

Gene and significance breakdown #

Total genes and gene combinations: 17
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
RTEL1, RTEL1-TNFRSF6B 115 54 1001 1642 101 0 2898
PARN 30 23 330 281 25 1 686
TERT 16 19 52 18 37 0 135
RTEL1 9 5 5 0 0 0 19
LOC110806306, TERC 12 2 3 2 0 0 18
ZCCHC8 1 0 5 1 2 0 9
LOC110806263, TERT 2 0 4 1 0 0 7
RPA1 3 0 1 0 0 0 4
RTEL1, TNFRSF6B 1 0 2 0 0 0 3
NAF1 2 0 0 0 0 0 2
CHRNA4, EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, PPDPF, PTK6, RTEL1, SRMS, STMN3 0 0 1 0 0 0 1
CHRNA4, EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, PPDPF, PTK6, RTEL1, SRMS, STMN3, TNFRSF6B 1 0 0 0 0 0 1
EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, PPDPF, PTK6, RTEL1, SRMS, STMN3 1 0 0 0 0 0 1
LOC128772425, LOC128772426, RTEL1, RTEL1-TNFRSF6B 0 0 1 0 0 0 1
NOP10 1 0 0 0 0 0 1
POT1 1 0 0 0 0 0 1
TERC 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 145 69 1316 1922 115 0 3567
Illumina Laboratory Services, Illumina 0 0 24 10 36 0 70
Fulgent Genetics, Fulgent Genetics 2 5 46 12 2 0 67
OMIM 44 0 0 0 0 0 44
Johns Hopkins Genomics, Johns Hopkins University 3 5 31 1 0 0 40
Genome-Nilou Lab 0 0 0 0 25 0 25
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 2 13 2 0 0 17
Garcia Pulmonary Genetics Research Laboratory, Columbia University Irving Medical Center 0 11 0 0 0 0 11
Degerman lab, Umeå University 5 2 1 0 0 0 8
Godley laboratory, The University of Chicago 2 2 1 0 0 0 5
Baylor Genetics 0 1 3 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 2 1 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 0 4 0 0 0 4
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 1 0 2 0 0 0 3
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 0 2
Department of Medical Genomics, Royal Prince Alfred Hospital 0 0 2 0 0 0 2
New York Genome Center 1 0 1 0 0 0 2
Epi-/Genome lab, Department of Hematology, Rigshospitalet 1 1 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 1
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 0 1 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 1

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