Variants studied for cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1

Minimum submission review status:		Collection method:
Minimum conflict level:
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
7	1	70	11	14	103

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	benign	total
VLDLR	6	1	70	11	14	102
ATP8A2	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 7

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Clinical Services Laboratory,Illumina	0	0	69	11	14	94
OMIM	4	0	0	0	0	4
GeneReviews	3	0	0	0	0	3
Fulgent Genetics,Fulgent Genetics	0	0	1	1	0	2
Broad Institute Rare Disease Group,Broad Institute	0	1	1	0	0	2
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	1	0	0	1
Génétique des Maladies du Développement, Hospices Civils de Lyon	1	0	0	0	0	1

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