Variants studied for Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1

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)

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
15	17	85	12	18	5	147

Gene and significance breakdown #

Total genes and gene combinations: 4

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
VLDLR	14	17	85	11	15	5	142
LOC130001468, VLDLR	0	0	0	1	2	0	3
LOC130001468, LOC130001469, LOC130001470, LOC130001471, LOC130001472, VLDLR	1	0	0	0	0	0	1
LOC130001471, VLDLR	0	0	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 20

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Illumina Laboratory Services, Illumina	0	0	69	11	14	0	94
Fulgent Genetics, Fulgent Genetics	1	7	4	2	0	0	14
OMIM	11	0	0	0	0	0	11
Genome-Nilou Lab	0	0	0	0	8	0	8
Revvity Omics, Revvity	0	1	7	0	0	0	8
Baylor Genetics	0	0	6	0	0	0	6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	4	0	0	0	0	4
3billion	0	3	0	0	0	0	3
GeneReviews	0	0	0	0	0	3	3
Neuberg Centre For Genomic Medicine, NCGM	1	0	2	0	0	0	3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	1	1	0	0	0	2
Genetic Services Laboratory, University of Chicago	1	1	0	0	0	0	2
GenomeConnect - Brain Gene Registry	0	0	0	0	0	2	2
Breakthrough Genomics, Breakthrough Genomics	1	0	0	0	0	0	1
Department of Biochemistry, Faculty of Medicine, University of Khartoum	0	1	0	0	0	0	1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	0	1	0	0	0	0	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	1	0	0	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	1	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	1	0	0	0	1
Medical Genetics Laboratory, AJA University of Medical Sciences	1	0	0	0	0	0	1

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