Variants studied for Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy

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
12	9	6	0	1	8	24

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	benign	not provided	total
NKX6-2	12	9	6	1	8	24

Submitter and significance breakdown #

Total submitters: 17

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Submitter	pathogenic	likely pathogenic	uncertain significance	benign	not provided	total
Yale Center for Mendelian Genomics, Yale University	8	5	0	0	0	13
GeneReviews	0	0	0	0	8	8
OMIM	6	0	0	0	0	6
Baylor Genetics	0	0	3	0	0	3
Revvity Omics, Revvity	2	0	1	0	0	3
Centogene AG - the Rare Disease Company	1	2	0	0	0	3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	2	0	0	0	0	2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	1	0	0	1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital	0	1	0	0	0	1
Mendelics	1	0	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	1	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	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	1	0	0	0	0	1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University	1	0	0	0	0	1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence,	0	0	1	0	0	1
Genome-Nilou Lab	0	0	0	1	0	1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)	0	1	0	0	0	1

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