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
29 15 255 256 83 3 522

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 20 9 59 173 64 0 295
not specified 0 0 115 110 60 1 268
Nonsyndromic Hearing Loss, Recessive 0 0 96 6 0 0 102
Deafness, autosomal recessive 77 8 6 35 19 6 2 70
Rare genetic deafness 8 1 0 0 0 0 9
Autosomal recessive non-syndromic sensorineural deafness type DFNB 1 0 0 0 0 0 1
Deafness 1 0 0 0 0 0 1
Variant of unknown significance 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 8 1 113 85 53 1 261
Invitae 11 2 0 154 52 0 219
Illumina Clinical Services Laboratory,Illumina 0 2 101 6 0 0 109
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
PreventionGenetics,PreventionGenetics 0 0 0 6 17 0 23
Athena Diagnostics Inc 0 0 2 2 14 0 18
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 6 0 0 0 7
Fulgent Genetics,Fulgent Genetics 3 0 2 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 3 1 0 0 0 0 4
OMIM 2 0 1 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 1 1 0 3
Mendelics 0 0 0 0 3 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 1 0 0 0 3
Baylor Genetics 1 0 1 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
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
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Mayo Clinic Genetic Testing 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
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
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 0 1

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