Variants studied for Congenital cerebellar hypoplasia

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
6	31	53	8	8	103

Gene and significance breakdown #

Total genes and gene combinations: 30

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
VLDLR	0	0	45	6	6	55
OXR1	4	1	4	0	1	9
CASK	0	4	0	0	0	4
LOC130001468, VLDLR	0	0	1	1	1	3
BCL11A	0	2	0	0	0	2
DDX3X	0	2	0	0	0	2
FOXP1	0	2	0	0	0	2
PMM2	0	2	0	0	0	2
RARS2	0	2	0	0	0	2
STXBP1	0	2	0	0	0	2
AHDC1	0	1	0	0	0	1
ATAD3A	1	0	0	0	0	1
AUTS2	0	1	0	0	0	1
DKC1	0	1	0	0	0	1
FGFR1	0	1	0	0	0	1
FZD3	0	1	0	0	0	1
KIF4A	0	1	0	0	0	1
L1CAM	0	1	0	0	0	1
LOC130000962, OXR1	0	0	1	0	0	1
LOC130001471, VLDLR	0	0	0	1	0	1
MACF1	0	0	1	0	0	1
OPHN1	0	1	0	0	0	1
SEMA6B	0	0	1	0	0	1
SETD2	0	1	0	0	0	1
SPTAN1	0	1	0	0	0	1
TMLHE	0	1	0	0	0	1
TSEN54	1	0	0	0	0	1
TUBA1A	0	1	0	0	0	1
TUBB2A	0	1	0	0	0	1
WDR37	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 11

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	46	8	7	59
University of Washington Center for Mendelian Genomics, University of Washington	0	30	2	0	0	32
OMIM	4	0	0	0	0	4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	1	1	0	0	2
Baylor Genetics	0	0	1	0	0	1
Revvity Omics, Revvity	0	0	1	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	1	0	0	0	0	1
Mitochondrial Disorders Lab i+12, Hospital Universitario 12 de Octubre	1	0	0	0	0	1
New York Genome Center	0	0	1	0	0	1
Genome-Nilou Lab	0	0	0	0	1	1

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