ClinVar Miner

Variants in gene H3-3A

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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 other total
13 15 26 2 0 1 44

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign other total
not provided 6 4 15 0 0 23
Bryant-Li-Bhoj neurodevelopmental syndrome 1 9 3 4 0 0 15
Inborn genetic diseases 0 4 3 0 0 7
Global developmental delay; Short stature; Delayed speech and language development; Intellectual disability; Brain imaging abnormality 0 6 0 0 0 6
not specified 0 2 3 0 0 5
H3-3A-related disorder 0 0 2 2 0 4
H3F3A-related disorder 1 1 0 0 0 2
Glioblastoma 0 0 0 0 1 1
Neurodevelopmental disorder 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign other total
GeneDx 5 2 10 0 0 17
Ambry Genetics 0 6 6 0 0 12
OMIM 7 0 0 0 0 7
Baylor Genetics 0 6 0 0 0 6
PreventionGenetics, part of Exact Sciences 0 0 2 2 0 4
CeGaT Center for Human Genetics Tuebingen 0 1 3 0 0 4
Labcorp Genetics (formerly Invitae), Labcorp 1 0 1 0 0 2
Illumina Laboratory Services, Illumina 1 0 1 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 2
3billion 1 0 1 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 0 0 0 0 1 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 1 0 0 0 0 1

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