ClinVar Miner

Variants in gene GRHL2

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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
9 15 109 92 52 258

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 4 6 74 83 52 206
not specified 0 0 14 14 11 38
Inborn genetic diseases 0 0 30 2 0 32
GRHL2-related disorder 0 3 2 6 0 11
Autosomal dominant nonsyndromic hearing loss 28 1 3 2 0 3 9
Corneal dystrophy, posterior polymorphous, 4 2 0 3 0 3 8
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome 2 0 0 0 3 5
Autosomal dominant nonsyndromic hearing loss 28; Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome; Corneal dystrophy, posterior polymorphous, 4 0 0 2 1 0 3
Corneal dystrophy 0 3 0 0 0 3
Hearing impairment 0 0 1 0 0 1
Progressive sensorineural hearing impairment 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 4 0 47 50 15 116
GeneDx 0 2 34 37 41 114
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 11 12 9 32
Ambry Genetics 0 0 30 2 0 32
Breakthrough Genomics, Breakthrough Genomics 0 0 0 15 17 32
PreventionGenetics, part of Exact Sciences 0 2 2 6 4 14
CeGaT Center for Human Genetics Tuebingen 0 1 3 8 0 12
OMIM 5 0 0 0 0 5
Eurofins Ntd Llc (ga) 0 1 3 0 1 5
Athena Diagnostics 0 0 0 0 3 3
Fulgent Genetics, Fulgent Genetics 0 0 2 1 0 3
Hardcastle Lab, UCL Institute of Ophthalmology 0 3 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 2 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 2 0 0 2
Mendelics 0 0 1 0 1 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 2
Institute of Rare Diseases, West China Hospital, Sichuan University 0 2 0 0 0 2
Revvity Omics, Revvity 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 1
Otology & Neurotology- Genomics of vestibular disorders (CTS-495), Jose Antonio López Escámez, Centro Pfizer - Universidad de Granada - Junta de Andalucía de Genómica e Investigación Oncológica (GENYO) 0 0 1 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 1 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 1 1
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 0 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1

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