ClinVar Miner

Variants studied for Bryant-Li-Bhoj neurodevelopmental syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
16 17 8 0 0 1 38

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance not provided total
H3-3A 9 6 4 1 19
H3-3B 7 11 4 0 19

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance not provided total
OMIM 12 0 0 0 12
3billion 1 4 2 0 7
Institute of Human Genetics, University of Leipzig Medical Center 1 2 2 0 5
Illumina Laboratory Services, Illumina 1 2 1 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 2 0 0 2
Baylor Genetics 0 1 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 1 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 1 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 1 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 1
Molecular Genetics Laboratory, Motol Hospital 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 1

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