Variants studied for Periventricular nodular heterotopia 7

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
5	6	55	38	7	108

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	total
NEDD4L	5	6	53	33	6	101
LOC130062568, NEDD4L	0	0	1	3	1	4
LOC126862763, NEDD4L	0	0	1	2	0	3

Submitter and significance breakdown #

Total submitters: 29

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Fulgent Genetics, Fulgent Genetics	0	0	24	33	3	60
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	0	4	5	9
New York Genome Center	0	0	6	0	0	6
OMIM	5	0	0	0	0	5
Baylor Genetics	1	0	3	0	0	4
Revvity Omics, Revvity	0	0	3	0	0	3
Genomic Research Center, Shahid Beheshti University of Medical Sciences	1	0	2	0	0	3
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals	2	0	0	0	0	2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	1	1	0	0	2
Clinical Genomics Laboratory, Washington University in St. Louis	0	0	2	0	0	2
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	1	1	0	2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	2	0	0	2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	0	0	2	0	0	2
3billion	0	1	1	0	0	2
Institute of Human Genetics, University of Goettingen	0	0	1	0	0	1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital	0	0	1	0	0	1
Centogene AG - the Rare Disease Company	0	0	1	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	1	0	0	1
Daryl Scott Lab, Baylor College of Medicine	0	1	0	0	0	1
Bruce Lefroy Centre, Murdoch Childrens Research Institute	0	1	0	0	0	1
Genetics Division, Universidade Federal de Sao Paulo	0	1	0	0	0	1
Génétique des Maladies du Développement, Hospices Civils de Lyon	0	0	1	0	0	1
Cavalleri Lab, Royal College of Surgeons in Ireland	0	1	0	0	0	1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	0	1	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	0	0	1
Molecular Genetics, Royal Melbourne Hospital	0	0	1	0	0	1
Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb	0	0	1	0	0	1
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences	1	0	0	0	0	1
MVZ Medizinische Genetik Mainz	0	0	1	0	0	1

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