ClinVar Miner

Variants in gene combination RTEL1, RTEL1-TNFRSF6B

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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
30 43 166 206 61 1 473

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 2 2 6 179 50 0 239
Dyskeratosis congenita, autosomal recessive, 5; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 7 4 109 6 9 0 135
Dyskeratosis congenita, autosomal recessive, 5 12 31 42 5 1 0 85
not specified 0 0 23 18 11 0 51
Dyskeratosis congenita 6 7 0 0 0 0 12
Idiopathic fibrosing alveolitis, chronic form 9 2 0 0 0 0 11
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 8 0 1 1 0 0 10
Dyskeratosis congenita, autosomal dominant, 4 2 0 0 0 0 0 2
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: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 7 3 105 185 53 0 353
Counsyl 1 30 39 5 1 0 76
Genetic Services Laboratory, University of Chicago 3 1 20 16 3 0 43
OMIM 20 0 0 0 0 0 20
Integrated Genetics/Laboratory Corporation of America 3 5 1 0 6 0 15
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 1 3 2 7 0 13
University of Washington Center for Mendelian Genomics,University of Washington 9 0 0 0 0 0 9
GeneDx 2 2 1 0 0 0 5
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 3 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 0 0 0 5
Mendelics 0 0 3 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 Respiratory and Critical Care Medicine, Tongji Hospital,Tongji Medical College, Huazhong University of Science and Technology 0 2 0 0 0 0 2
Johns Hopkins Genomics,Johns Hopkins University 0 0 1 1 0 0 2
Baylor Genetics 1 0 0 0 0 0 1
GeneReviews 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 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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