ClinVar Miner

Variants studied for Hydrocephalus, nonsyndromic, autosomal recessive 2

Coded as:
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 not provided total
18 18 38 3 3 2 79

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 not provided total
MPDZ 18 16 38 3 3 2 77
ACADM 0 1 0 0 0 0 1
ANO6 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Baylor Genetics 1 1 16 0 0 0 18
Revvity Omics, Revvity 1 4 9 0 0 0 14
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 3 2 0 0 0 7
OMIM 5 0 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 1 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 1 2 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 0 0 2
MGZ Medical Genetics Center 0 1 1 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 1 1 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 2 0 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 1 0 1 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 0 0 0 0 2
3billion, Medical Genetics 0 0 0 2 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Mendelics 0 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Institute of Medical Genetics, Medical University of Vienna 1 0 0 0 0 0 1
DASA 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 1

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