Variants studied for Andersen Tawil syndrome

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
24	8	93	3	38	9	170

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
KCNJ2	24	8	91	3	37	7	165
KCNJ2, LOC130061539	0	0	2	0	1	0	3
KCNJ5	0	0	0	0	0	2	2

Submitter and significance breakdown #

Total submitters: 27

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Illumina Laboratory Services, Illumina	0	0	81	3	38	0	122
OMIM	12	0	0	0	0	0	12
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues	5	1	5	0	0	0	11
GeneReviews	0	0	0	0	0	9	9
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences	3	1	2	0	0	0	6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	2	0	1	0	0	0	3
Blueprint Genetics	2	1	0	0	0	0	3
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine	0	0	2	0	0	0	2
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	1	1	0	0	0	0	2
Centre for Mendelian Genomics, University Medical Centre Ljubljana	1	0	1	0	0	0	2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital	1	0	0	0	0	0	1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	1	0	0	0	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	0	0	0	0	0	1
Invitae	0	1	0	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	1	0	0	0	0	0	1
CSER _CC_NCGL, University of Washington	0	0	1	0	0	0	1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations	1	0	0	0	0	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	1	0	0	0	0	0	1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	1	0	0	0	0	0	1
Clinical Genetics Laboratory, Region Ostergotland	1	0	0	0	0	0	1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	1	0	0	0	0	0	1
Genetics Laboratory, Department of Biology, Semnan University	1	0	0	0	0	0	1
Center of Excellence for Medical Genomics, Chulalongkorn University	0	1	0	0	0	0	1
Clinical Genomics Laboratory, Stanford Medicine	0	0	1	0	0	0	1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences	0	1	0	0	0	0	1
3billion	0	0	1	0	0	0	1
MVZ Medizinische Genetik Mainz	0	0	1	0	0	0	1

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