Variants studied for cerebellar ataxia-hypogonadism 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	total
11	2	14	2	0	28

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	total
RNF216	11	2	13	2	27
PNPLA6	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 15

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	total
OMIM	6	0	0	0	6
Revvity Omics, Revvity	0	0	4	0	4
Molecular Genetics, Royal Melbourne Hospital	0	0	3	0	3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	2	0	0	0	2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen	0	0	2	0	2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris	0	2	0	0	2
3billion	1	0	0	1	2
Mendelics	0	0	1	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	1
Fulgent Genetics, Fulgent Genetics	0	0	0	1	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	1	0	0	0	1
Institute of Human Genetics, University Hospital of Duesseldorf	0	0	1	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	1	0	0	0	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	0	1	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	0	1

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