ClinVar Miner

Variants in gene combination RTEL1, RTEL1-TNFRSF6B

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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
58 53 417 417 63 1 937

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Dyskeratosis congenita, autosomal recessive, 5; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 32 16 322 356 54 0 777
Dyskeratosis congenita 6 9 61 23 24 0 121
Dyskeratosis congenita, autosomal recessive, 5 13 31 53 6 1 0 98
not provided 2 2 9 55 6 0 74
not specified 0 0 20 20 12 0 51
Dyskeratosis congenita, autosomal dominant 1 0 0 9 17 1 0 27
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 10 0 9 1 0 0 20
Idiopathic Pulmonary Fibrosis 9 2 0 0 0 0 11
Dyskeratosis congenita, autosomal dominant, 4 2 0 0 0 0 0 2
Microcephaly 0 0 2 0 0 0 2
Acute myeloid leukemia 1 0 0 0 0 0 1
Immunodeficiency 0 0 1 0 0 0 1
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 0 0 1 0 0 0 1
RTEL1-related Disorders 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 32 15 317 391 54 0 809
Natera, Inc. 2 2 70 40 25 0 139
Counsyl 1 30 39 5 1 0 76
Genetic Services Laboratory, University of Chicago 3 1 17 18 4 0 43
OMIM 20 0 0 0 0 0 20
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 2 3 2 7 0 15
Integrated Genetics/Laboratory Corporation of America 3 5 1 0 6 0 15
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 3 7 0 0 11
Johns Hopkins Genomics, Johns Hopkins University 2 0 8 1 0 0 11
Baylor Genetics 1 0 9 0 0 0 10
University of Washington Center for Mendelian Genomics, University of Washington 9 0 0 0 0 0 9
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 6 0 0 0 6
GeneDx 2 2 1 0 0 0 5
Mendelics 0 0 3 0 0 0 3
Godley laboratory, The University of Chicago 1 0 2 0 0 0 3
Fulgent Genetics,Fulgent Genetics 0 1 1 0 0 0 2
Blueprint Genetics 0 0 2 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 0 0 0 2
Department of Respiratory and Critical Care Medicine, Tongji Hospital,Tongji Medical College, Huazhong University of Science and Technology 0 2 0 0 0 0 2
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 2 0 0 0 2
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 0 0 1 1 0 0 2
GeneReviews 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Institute of Human Genetics,University of Wuerzburg 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 0 1 0 1

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