Variants studied for Dyskeratosis congenita, X-linked

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
20	9	14	5	5	41	72

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
DKC1	17	9	13	4	5	40	69
RTEL1, RTEL1-TNFRSF6B	2	0	0	0	0	0	2
DKC1, LOC130068886	1	0	1	1	0	1	1

Submitter and significance breakdown #

Total submitters: 27

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
GeneReviews	1	0	0	0	0	35	36
UniProtKB/Swiss-Prot	0	0	0	0	0	22	22
OMIM	15	0	0	0	0	0	15
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	2	2	1	0	0	5
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	0	0	4	0	0	0	4
Baylor Genetics	0	1	1	1	0	0	3
Fulgent Genetics, Fulgent Genetics	0	0	1	1	1	0	3
Genome-Nilou Lab	0	0	0	0	3	0	3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	1	1	0	0	0	0	2
Johns Hopkins Genomics, Johns Hopkins University	0	0	0	2	0	0	2
3billion	0	0	2	0	0	0	2
Neuberg Centre For Genomic Medicine, NCGM	0	0	2	0	0	0	2
Pediatric Department	2	0	0	0	0	0	2
Genetic Services Laboratory, University of Chicago	0	1	0	0	0	0	1
Illumina Laboratory Services, Illumina	0	0	1	0	0	0	1
Dobyns Lab, Seattle Children's Research Institute	1	0	0	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	1	0	0	0	0	1
Human Genetics Unit, University Of Colombo	0	1	0	0	0	0	1
Daryl Scott Lab, Baylor College of Medicine	0	0	0	1	0	0	1
Institutes of Biomedical Sciences, Shanxi University	0	0	0	0	1	0	1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	1	0	0	1
Degerman lab, Umeå University	1	0	0	0	0	0	1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	0	0	1	0	0	0	1
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies	0	0	0	0	0	1	1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	0	1	0	0	0	0	1
Godley laboratory, The University of Chicago	0	1	0	0	0	0	1
DASA	0	1	0	0	0	0	1

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