Variants studied for adenosine kinase deficiency

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	total
3	7	24	7	10	49

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
ADK	2	5	24	6	8	44
ADK, LOC102723439	1	2	0	1	2	5

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	19	5	6	30
Fulgent Genetics, Fulgent Genetics	0	3	2	0	0	5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	0	2	2	4
OMIM	3	0	0	0	0	3
Mendelics	0	1	0	0	1	2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	0	2	0	0	0	2
Baylor Genetics	0	0	1	0	0	1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital	1	0	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	1	0	0	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	1	0	0	0	1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center	0	0	1	0	0	1
Genome-Nilou Lab	0	0	0	0	1	1
3billion, Medical Genetics	0	0	1	0	0	1

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