ClinVar Miner

Variants studied for Hearing loss, autosomal recessive 111

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
8 9 2 0 0 16

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
MPZL2 8 8 2 15
LOC130006841, MPZL2 0 1 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance total
Department of Pathology and Laboratory Medicine, Sinai Health System 2 1 1 4
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 3 1 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 2 1 0 3
Laboratory of Molecular Genetics, Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine 3 0 0 3
3billion 2 1 0 3
OMIM 2 0 0 2
Institute of Rare Diseases, West China Hospital, Sichuan University 2 0 0 2
Baylor Genetics 1 0 0 1
King Laboratory, University of Washington 1 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 1 0 1
Revvity Omics, Revvity 0 1 0 1
MGZ Medical Genetics Center 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 1 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 1 0 0 1
Neurogenetic Laboratory, Second Faculty of Medicine, Charles University 0 1 0 1

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