ClinVar Miner

Variants in gene LOXHD1

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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 not provided total
73 52 388 420 83 3 831

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 63 36 65 338 64 0 531
Deafness, autosomal recessive 77 13 12 293 58 31 2 350
not specified 0 0 120 115 61 1 278
Hearing impairment 0 7 7 0 0 0 14
Rare genetic deafness 7 4 0 0 0 0 11
Nonsyndromic Hearing Loss, Recessive 0 0 4 1 0 0 5
Inborn genetic diseases 0 0 2 0 0 0 2
Autosomal recessive nonsyndromic deafness 1 0 0 0 0 0 1
Deafness 1 0 0 0 0 0 1
Stickler syndrome 0 0 0 1 0 0 1
Variant of unknown significance 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 58 26 0 321 52 0 457
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 7 4 118 89 54 1 273
Illumina Clinical Services Laboratory,Illumina 0 2 212 8 5 0 227
Natera, Inc. 3 2 90 32 28 0 155
GeneDx 3 4 10 41 25 0 83
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 8 1 46 7 9 0 71
Counsyl 0 3 19 18 2 0 42
Athena Diagnostics Inc 0 0 5 3 15 0 23
PreventionGenetics, PreventionGenetics 0 0 0 6 17 0 23
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center 0 7 7 1 0 0 15
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
CeGaT Praxis fuer Humangenetik Tuebingen 1 3 1 0 0 0 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 2 0 2 0 4
Laboratory of Prof. Karen Avraham,Tel Aviv University 4 0 0 0 0 0 4
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 4 0 0 0 4
OMIM 2 0 1 0 0 0 3
Mendelics 0 0 0 0 3 0 3
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 2 0 0 0 3
Ambry Genetics 0 0 2 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
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 0 0 1 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 1 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 1
Hereditary Research Laboratory, Bethlehem University 1 0 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 0 1

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