Variants studied for Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits

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
2	4	29	1	9	45

Gene and significance breakdown #

Total genes and gene combinations: 1

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
CACNA1G	2	4	29	1	9	45

Submitter and significance breakdown #

Total submitters: 20

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Genome-Nilou Lab	0	0	0	0	8	8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	4	0	0	5
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	5	0	0	5
Institute of Human Genetics, University of Leipzig Medical Center	0	1	2	1	0	4
New York Genome Center	0	0	4	0	0	4
Neuberg Centre For Genomic Medicine, NCGM	0	0	4	0	0	4
OMIM	2	0	0	0	0	2
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	2	0	0	2
MVZ Medizinische Genetik Mainz	0	0	2	0	0	2
Baylor Genetics	0	0	1	0	0	1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital	1	0	0	0	0	1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	0	1	0	0	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	1	0	0	0	1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	1	0	0	0	1
Genetics and Molecular Pathology, SA Pathology	0	0	1	0	0	1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill	0	0	1	0	0	1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	0	0	1	0	0	1
Pars Genome Lab	0	0	0	0	1	1
3billion	0	0	1	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	0	1	0	0	1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.