ClinVar Miner

Variants studied for pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1

Included ClinVar conditions (4):
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 total
18 22 84 19 37 172

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TERT 16 22 78 18 37 163
LOC110806263, TERT 2 0 5 1 0 8
RTEL1, RTEL1-TNFRSF6B 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 24 10 36 70
Fulgent Genetics, Fulgent Genetics 0 2 48 7 2 59
OMIM 15 0 0 0 0 15
Garcia Pulmonary Genetics Research Laboratory, Columbia University Irving Medical Center 0 11 0 0 0 11
Johns Hopkins Genomics, Johns Hopkins University 0 3 7 0 0 10
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 3 1 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 2 0 5
Degerman lab, Umeå University 1 2 1 0 0 4
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 2
Department of Medical Genomics, Royal Prince Alfred Hospital 0 1 1 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Baylor Genetics 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 1
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 0 1 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 1

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