Variants studied for Lissencephaly 9 with complex brainstem malformation

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
7	7	50	18	30	1	109

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
MACF1	7	7	48	18	28	1	105
LOC114803468, MACF1	0	0	1	0	1	0	2
LOC126805711, MACF1	0	0	1	0	1	0	2

Submitter and significance breakdown #

Total submitters: 25

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Genome-Nilou Lab	0	0	7	14	30	0	51
Baylor Genetics	0	1	10	0	0	0	11
New York Genome Center	0	0	11	0	0	0	11
Revvity Omics, Revvity	0	0	7	0	0	0	7
Fulgent Genetics, Fulgent Genetics	0	0	1	6	0	0	7
OMIM	6	0	0	0	0	0	6
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	5	0	0	0	5
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine	0	0	3	0	0	0	3
Institute of Human Genetics, University of Leipzig Medical Center	0	0	1	1	0	0	2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	1	0	0	0	0	1
Institute of Human Genetics, University of Goettingen	0	0	1	0	0	0	1
MGZ Medical Genetics Center	0	0	1	0	0	0	1
Centogene AG - the Rare Disease Company	0	0	1	0	0	0	1
Mendelics	1	0	0	0	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	1	0	0	0	0	1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen	0	1	0	0	0	0	1
Duke University Health System Sequencing Clinic, Duke University Health System	0	1	0	0	0	0	1
Genetics and Molecular Pathology, SA Pathology	0	0	1	0	0	0	1
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	0	1	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	0	1	0	0	0	1
Breda Genetics srl	0	0	1	0	0	0	1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital	0	0	1	0	0	0	1
Suma Genomics	0	1	0	0	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	1	0	0	0	0	1

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