ClinVar Miner

Variants studied for Periventricular nodular heterotopia 7

Coded as:
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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 4 50 33 3 93

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 4 48 29 3 87
LOC130062568, NEDD4L 0 0 1 3 0 4
LOC126862763, NEDD4L 0 0 1 1 0 2

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 0 0 24 33 3 60
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 0 0 3 0 0 3
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 2 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 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
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
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

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