Variants studied for Holoprosencephaly 9

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	4	67	41	48	165

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
GLI2	11	4	67	41	48	165

Submitter and significance breakdown #

Total submitters: 14

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	59	40	41	140
Genome-Nilou Lab	0	0	0	0	9	9
OMIM	7	0	0	0	0	7
Baylor Genetics	3	1	0	0	0	4
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	3	1	0	4
New York Genome Center	0	0	2	0	0	2
Neuberg Centre For Genomic Medicine, NCGM	0	0	2	0	0	2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	1	1	0	0	2
Mendelics	1	0	0	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	0	1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues	0	1	0	0	0	1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	0	1	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	0	0	0	1	1
3billion	0	1	0	0	0	1

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