ClinVar Miner

Variants in gene combination RTEL1, RTEL1-TNFRSF6B

Minimum submission review status: Collection method:
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Gene type:
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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
29 39 110 46 43 1 244

Condition and significance breakdown #

Total conditions: 10
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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 4 1 59 25 35 0 124
Dyskeratosis congenita, autosomal recessive, 5 11 31 38 5 1 0 81
not specified 0 0 21 18 10 0 48
not provided 2 2 2 0 6 0 12
Dyskeratosis congenita 6 6 0 0 0 0 11
Idiopathic fibrosing alveolitis, chronic form 9 2 0 0 0 0 11
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 8 0 0 0 0 0 8
Dyskeratosis congenita, autosomal dominant, 4 2 0 0 0 0 0 2
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: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 4 0 55 25 35 0 119
Counsyl 1 30 38 5 1 0 75
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
University of Washington Center for Mendelian Genomics,University of Washington 9 0 0 0 0 0 9
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 2 6 0 8
GeneDx 2 2 1 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 0 4
Fulgent Genetics 0 1 1 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
GeneReviews 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 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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