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:
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
14 10 6 0 0 28

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
H3-3A 9 2 4 14
H3-3B 5 8 2 14

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 12 0 0 12
Institute of Human Genetics, University of Leipzig Medical Center 0 2 2 4
3billion 1 1 1 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 2
Illumina Laboratory Services, Illumina 1 0 1 2
Baylor Genetics 0 1 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 1
Molecular Genetics Laboratory, Motol Hospital 0 1 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 1 0 0 1

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