ClinVar Miner

Variants studied for craniosynostosis 4

Included ClinVar conditions (4):
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
11 9 7 0 0 26

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
ERF 11 9 5 24
​intergenic 0 0 1 1
MYH7 0 0 1 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 7 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 1 3
Baylor Genetics 0 1 1 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 2
Johns Hopkins Genomics, Johns Hopkins University 0 2 0 2
New York Genome Center 0 0 2 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 1
Randwick Genomics Laboratory, Prince of Wales Hospital Sydney, Australia, New South Wales Health Pathology 1 0 0 1
Fulgent Genetics, Fulgent Genetics 1 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 1
Department of Medical Genetics, Oslo University Hospital 1 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 1
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 0 0 1 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 0 1
3billion 1 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 1

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