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
21 10 239 115 59 1 371

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not specified 0 0 102 104 59 1 248
Nonsyndromic Hearing Loss, Recessive 0 0 96 6 0 0 102
not provided 10 5 57 1 3 0 76
Deafness, autosomal recessive 77 8 5 32 18 3 0 61
Nonsyndromic hearing loss and deafness 7 1 0 0 0 0 8
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: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 7 1 100 77 52 1 238
Illumina Clinical Services Laboratory,Illumina 0 2 101 6 0 0 109
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 8 1 46 7 9 0 71
GeneDx 3 3 10 21 17 0 54
Counsyl 0 3 19 18 2 0 42
PreventionGenetics 0 0 0 6 17 0 23
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 6 0 0 0 7
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
OMIM 2 0 1 0 0 0 3
Baylor Miraca Genetics Laboratories, 1 0 1 0 0 0 2
Athena Diagnostics Inc 0 0 0 1 1 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
Laboratory of Prof. Karen Avraham,Tel Aviv University 2 0 0 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 1 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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