Variants studied for neurodevelopmental disorder with visual defects and brain anomalies

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
4	4	10	1	7	25

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
HK1	4	4	10	1	7	25

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Genome-Nilou Lab	0	0	0	0	6	6
OMIM	4	0	0	0	0	4
Baylor Genetics	1	0	2	0	0	3
Fulgent Genetics, Fulgent Genetics	0	0	1	1	1	3
New York Genome Center	0	0	3	0	0	3
3billion	1	1	0	0	0	2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	1	0	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	1	0	0	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	1	0	0	0	1
Juno Genomics, Hangzhou Juno Genomics, Inc	0	0	1	0	0	1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	1	0	0	0	0	1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	0	0	1	0	0	1
Eurofins-Biomnis	0	1	0	0	0	1
MVZ Medizinische Genetik Mainz	0	0	1	0	0	1
Department of Medical Genetics, JSS Medical College, Mysore	1	0	0	0	0	1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud	0	0	1	0	0	1

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