ClinVar Miner

Variants studied for autosomal recessive nonsyndromic deafness 77

Included ClinVar conditions (1):
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
13 12 293 58 31 2 350

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
LOXHD1 13 12 293 58 31 2 350

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 2 208 7 5 0 222
Natera, Inc. 3 2 90 32 28 0 155
Counsyl 0 3 19 18 2 0 42
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 3 6 0 10
Baylor Genetics 1 0 6 0 0 0 7
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 6 0 0 0 7
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 2 3 1 0 0 0 6
Fulgent Genetics,Fulgent Genetics 3 0 2 0 0 0 5
Laboratory of Prof. Karen Avraham,Tel Aviv University 4 0 0 0 0 0 4
Mendelics 0 0 0 0 3 0 3
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 2 0 0 0 3
OMIM 2 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 0 2 0 0 0 2
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 0 0 2 0 0 0 2
Neurogenetic Laboratory,Second Faculty of Medicine, Charles University 0 1 1 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Hereditary Research Laboratory, Bethlehem University 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 0 1

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