ClinVar Miner

Variants studied for Dyskeratosis congenita, autosomal recessive 5

Coded as:
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
18 91 85 6 23 1 211

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 not provided total
RTEL1, RTEL1-TNFRSF6B 18 91 64 6 22 1 189
RTEL1, RTEL1-TNFRSF6B, TNFRSF6B 0 0 20 0 1 0 21
ARFRP1, RTEL1, RTEL1-TNFRSF6B, TNFRSF6B 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 1 30 60 5 1 0 97
Baylor Genetics 8 68 12 0 0 0 88
Genome-Nilou Lab 0 0 0 0 21 0 21
OMIM 11 0 0 0 0 0 11
Neuberg Centre For Genomic Medicine, NCGM 0 0 6 0 0 0 6
Mendelics 0 1 3 0 1 0 5
3billion 1 1 2 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 2 0 0 0 3
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 0 1 1 0 0 2
Godley laboratory, The University of Chicago 0 0 2 0 0 0 2
New York Genome Center 0 1 1 0 0 0 2
GeneReviews 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 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
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 0 0 1 0 0 0 1

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