Variants studied for Microcephaly 17, primary, autosomal recessive

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	not provided	total
9	2	26	1	6	1	45

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	not provided	total
CIT	8	2	26	1	6	1	44
RHO	1	0	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 15

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Baylor Genetics	0	0	9	0	0	0	9
OMIM	6	0	0	0	0	0	6
Genome-Nilou Lab	0	0	0	0	6	0	6
Revvity Omics, Revvity	0	0	5	0	0	0	5
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences	1	1	1	0	0	0	3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	0	3	0	0	0	3
Neuberg Centre For Genomic Medicine, NCGM	0	1	2	0	0	0	3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	2	0	0	0	2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	2	0	0	0	0	0	2
Undiagnosed Diseases Network, NIH	0	0	2	0	0	0	2
Fulgent Genetics, Fulgent Genetics	0	0	0	1	0	0	1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	0	0	1	0	0	0	1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System	0	0	1	0	0	0	1
3billion	1	0	0	0	0	0	1
GenomeConnect - Brain Gene Registry	0	0	0	0	0	1	1

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