Variants studied for Neurodegeneration with brain iron accumulation 4

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
20	14	93	18	36	3	170

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
C19orf12	20	14	88	17	35	3	163
C19orf12, LOC130064129	0	0	5	1	1	0	7

Submitter and significance breakdown #

Total submitters: 27

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Illumina Laboratory Services, Illumina	1	0	85	18	36	0	140
OMIM	12	0	0	0	0	0	12
Genetic Services Laboratory, University of Chicago	2	3	0	0	0	0	5
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	4	0	0	0	0	0	4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	0	4	0	0	0	4
GeneReviews	0	0	0	0	0	3	3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	3	0	0	0	0	0	3
Aziz Sancar Institute of Experimental Medicine, Istanbul University	3	0	0	0	0	0	3
Solve-RD Consortium	0	3	0	0	0	0	3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	2	0	0	0	0	2
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	1	1	0	0	0	2
Gene Discovery Core-Manton Center, Boston Children's Hospital	1	1	0	0	0	0	2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	1	1	0	2
Genome Diagnostics Laboratory, Amsterdam University Medical Center	0	0	0	1	1	0	2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	0	1	1	0	2
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University	0	2	0	0	0	0	2
3billion, Medical Genetics	0	2	0	0	0	0	2
Mendelics	0	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	0	1
SIB Swiss Institute of Bioinformatics	1	0	0	0	0	0	1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia	0	1	0	0	0	0	1
Breda Genetics srl	0	0	1	0	0	0	1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research	0	0	1	0	0	0	1
Genome-Nilou Lab	0	0	0	0	1	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	0	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	1	0	0	0	0	1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg	0	1	0	0	0	0	1

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