ClinVar Miner

Variants in gene MYO7A

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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
608 631 2009 2307 269 67 5060

Condition and significance breakdown #

Total conditions: 59
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 478 207 1365 2257 245 1 4251
Usher syndrome type 1B 104 123 556 43 49 0 872
Usher syndrome type 1 73 155 233 36 66 10 544
Autosomal recessive nonsyndromic hearing loss 2 103 79 250 33 49 0 496
not specified 0 1 238 154 96 0 465
Autosomal dominant nonsyndromic hearing loss 11 12 12 194 60 90 0 357
Inborn genetic diseases 7 0 301 9 0 0 317
Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 22 80 117 13 0 0 230
Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 60 70 74 5 4 1 211
MYO7A-related disorder 16 16 48 79 3 2 162
Retinal dystrophy 39 33 37 1 1 0 109
Rare genetic deafness 60 45 0 0 0 0 105
Usher syndrome 50 39 7 2 0 0 94
Hearing loss, autosomal recessive 2 26 0 0 0 0 28
Hearing impairment 1 1 21 1 0 0 24
Nonsyndromic genetic hearing loss 3 4 5 0 2 0 14
Gastric cancer 0 0 0 0 0 12 12
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 12 12
Meniere disease 0 3 7 1 1 0 11
Sarcoma 0 0 0 0 0 11 11
Malignant tumor of esophagus 0 0 0 0 0 9 9
Ovarian serous cystadenocarcinoma 0 0 0 0 0 9 9
Retinitis pigmentosa 2 3 3 0 0 0 8
Uterine corpus endometrial carcinoma 0 0 0 0 0 8 8
Cervical cancer 0 0 0 0 0 7 7
Deafness 7 0 0 0 0 0 7
Ear malformation 4 3 0 0 0 0 7
Lung cancer 0 0 0 0 0 6 6
Monogenic hearing loss 4 2 0 0 0 0 6
Familial cancer of breast 0 0 0 0 0 5 5
See cases 2 1 1 0 0 0 4
Auditory neuropathy 1 2 0 0 0 0 3
Autosomal recessive MYO7A-related disorders 1 2 0 0 0 0 3
Melanoma 0 0 0 0 0 3 3
Thymoma 0 0 0 0 0 3 3
Usher syndrome type 2 3 0 0 0 0 0 3
Acute myeloid leukemia 0 0 0 0 0 2 2
Childhood onset hearing loss 0 0 2 0 0 0 2
Cholangiocarcinoma 0 0 0 0 0 2 2
Cone-rod dystrophy 0 0 2 0 0 0 2
Hearing loss 1 1 0 0 0 0 2
Hepatocellular carcinoma 0 0 0 0 0 2 2
Retinal disorder 0 2 0 0 0 0 2
Uterine carcinosarcoma 0 0 0 0 0 2 2
Adrenocortical carcinoma, hereditary 0 0 0 0 0 1 1
Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1; Retinitis pigmentosa 0 0 0 0 0 1 1
Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1; Retinitis pigmentosa 0 0 0 0 0 1 1
Bilateral sensorineural hearing impairment 1 0 0 0 0 0 1
Clear cell carcinoma of kidney 0 0 0 0 0 1 1
Cohen syndrome 0 0 0 0 1 0 1
Hearing loss, autosomal dominant 80 0 0 1 0 0 0 1
Hereditary breast ovarian cancer syndrome 0 1 0 0 0 0 1
Intellectual disability 0 0 1 0 0 0 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 1 1
Optic atrophy 0 0 1 0 0 0 1
Pendred syndrome 0 0 1 0 0 0 1
Sensorineural hearing loss disorder 1 0 0 0 0 0 1
Sensorineural hearing loss disorder; Global developmental delay; Seizure; Hypoglycemia; Hepatomegaly 0 0 1 0 0 0 1
Sensorineural hearing loss disorder; Global developmental delay; Short stature; Microcephaly 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 147
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 465 122 1053 2093 108 0 3841
GeneDx 66 47 417 180 189 0 899
Natera, Inc. 97 122 555 43 49 0 866
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 62 49 140 114 72 0 437
Ambry Genetics 7 0 301 9 0 0 317
Illumina Laboratory Services, Illumina 3 4 210 89 56 0 260
Counsyl 28 87 116 13 0 0 244
Fulgent Genetics, Fulgent Genetics 55 68 57 5 4 0 189
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 33 18 106 17 13 0 186
PreventionGenetics, part of Exact Sciences 11 10 45 81 32 0 179
CeGaT Center for Human Genetics Tuebingen 14 14 58 62 5 0 153
Breakthrough Genomics, Breakthrough Genomics 1 0 4 59 85 0 149
Eurofins Ntd Llc (ga) 8 1 72 13 22 0 116
Myriad Genetics, Inc. 6 95 6 0 0 0 107
Genome-Nilou Lab 2 2 25 12 47 0 80
Institute of Rare Diseases, West China Hospital, Sichuan University 34 35 0 0 0 0 69
Revvity Omics, Revvity 21 12 29 0 0 0 62
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 22 18 19 1 1 0 61
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 4 6 14 26 2 0 52
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 51 51
Blueprint Genetics 15 13 17 0 0 0 45
Clinical Genetics, Academic Medical Center 3 1 6 6 18 0 34
3billion 20 8 5 0 0 0 33
Mayo Clinic Laboratories, Mayo Clinic 0 0 7 4 22 0 33
ClinGen Hearing Loss Variant Curation Expert Panel 4 14 9 2 2 0 31
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 9 6 13 0 29
Athena Diagnostics 1 2 7 5 14 0 29
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 19 9 1 0 0 0 29
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 7 5 9 4 4 0 29
University of Washington Center for Mendelian Genomics, University of Washington 0 26 1 0 0 0 27
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 12 2 11 0 0 0 25
Mendelics 9 2 8 0 5 0 24
Baylor Genetics 5 6 11 0 0 0 21
King Laboratory, University of Washington 10 11 0 0 0 0 21
OMIM 20 0 1 0 0 0 21
Juno Genomics, Hangzhou Juno Genomics, Inc 8 5 7 0 0 0 20
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 1 1 17 0 0 0 19
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 7 8 2 0 0 19
Department of Pathology and Laboratory Medicine, Sinai Health System 2 0 15 0 0 0 17
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 12 4 0 0 0 0 16
Laboratory of Prof. Karen Avraham, Tel Aviv University 9 1 5 0 0 0 15
Clinical Genetics Laboratory, Skane University Hospital Lund 2 3 9 0 0 0 14
Sharon lab, Hadassah-Hebrew University Medical Center 11 3 0 0 0 0 14
NIHR Bioresource Rare Diseases, University of Cambridge 3 10 0 0 0 0 13
Variantyx, Inc. 7 6 0 0 0 0 13
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 9 0 1 0 12
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences 10 2 0 0 0 0 12
Dasa 9 1 0 0 1 0 11
GeneReviews 1 0 0 0 0 9 10
Neuberg Centre For Genomic Medicine, NCGM 3 3 4 0 0 0 10
Center for Statistical Genetics, Columbia University 8 0 1 0 0 0 9
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 3 4 3 0 0 0 9
Institute of Human Genetics, University of Leipzig Medical Center 2 3 3 1 0 0 9
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 6 3 0 0 0 0 9
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 2 6 1 0 0 9
WangQJ Lab, Chinese People's Liberation Army General Hospital 2 2 5 0 0 0 9
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 4 4 0 0 0 0 8
Kariminejad - Najmabadi Pathology & Genetics Center 4 4 0 0 0 0 8
The Shared Resource Centre "Genome", Research Centre for Medical Genetics 4 4 0 0 0 0 8
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 1 5 0 0 0 7
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 4 2 0 1 0 0 7
National Institute on Deafness and Communication Disorders, National Institutes of Health 5 0 2 0 0 0 7
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 5 1 0 0 6
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 3 2 0 6
Hereditary Research Laboratory, Bethlehem University 6 0 0 0 0 0 6
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 2 1 2 0 0 0 5
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 4 1 0 0 0 5
Hereditary Deafness Genetic Testing Group, The First Affiliated Hospital of Zhengzhou University 0 5 0 0 0 0 5
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 2 2 0 0 0 5
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 2 3 0 0 5
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 2 1 0 0 0 5
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 3 0 0 0 0 4
DBGen Ocular Genomics 1 3 0 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 2 0 0 0 4
Human Genetics Bochum, Ruhr University Bochum 0 1 3 0 0 0 4
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 4 0 0 4
Molecular Genetics Laboratory, Institute for Ophthalmic Research 4 0 0 0 0 0 4
Pars Genome Lab 1 0 2 1 0 0 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 2 0 0 0 0 3
Centre of Medical Genetics, University Hospital Muenster 2 1 0 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 0 1 0 0 0 3
Department of Ophthalmology and Visual Sciences Kyoto University 0 1 0 2 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 2 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Genomics England Pilot Project, Genomics England 0 3 0 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 2 1 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 3 0 0 0 3
Meniere Disease Neuroscience Research Program, Faculty of Medicine and Health, Kolling Institute, The University of Sydney 0 1 1 0 1 0 3
Molecular Genetics, Royal Melbourne Hospital 0 0 3 0 0 0 3
New York Genome Center 0 1 2 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 0 0 0 3 0 3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 2 0 0 0 3
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 0 2 0 0 0 2
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital 1 1 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 2 0 0 0 0 0 2
Department of Medical Genetics, College of Basic Medicine, Army Medical University 0 2 0 0 0 0 2
Dr.Nikuei Genetic Center 2 0 0 0 0 0 2
GeneID Lab - Advanced Molecular Diagnostics 0 2 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 1 0 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 1 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 2
INGEBI, INGEBI / CONICET 2 0 0 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 2 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 1 0 0 0 2
MGZ Medical Genetics Center 1 1 0 0 0 0 2
MVZ Martinsried, Medicover Genetics 0 1 1 0 0 0 2
MVZ Medizinische Genetik Mainz 0 0 2 0 0 0 2
Medical Molecular Genetics Department, National Research Center 0 2 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 0 0 0 0 0 2
OLLIN Analises Genomicas, OLLIN 1 1 0 0 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 2 0 0 0 0 0 2
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 0 0 0 2 0 2
Refractive Surgery Department, Bright Eye Hospital 0 2 0 0 0 0 2
Wonkam Laboratory, Johns Hopkins University 1 0 1 0 0 0 2
Breda Genetics srl, Breda Genetics srl 0 0 1 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Center of Human Genetics, Hôpital Erasme 0 1 0 0 0 0 1
Centre de Biotechnologie de Sfax, Université de Sfax 1 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology 1 0 0 0 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 0 1 0 0 0 0 1
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 0 0 1 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Genomics, Clalit Research Institute, Clalit Health Care 1 0 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Hereditary Risk Evalutation Team, Medical School Hannover 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 0 1
Key Research Laboratory of Chronic Disease Prevention and Treatment Mechanism of Integrated Traditional Chinese and Western Medicine, Changchun University of Chinese Medicine 1 0 0 0 0 0 1
Lab De Baere, Eye and Developmental Genetics Lab, Ghent University 1 0 0 0 0 0 1
Laboratory of Dr. Barbara Vona, University Medical Center Göttingen 0 1 0 0 0 0 1
Laboratory of Human Genetics, Institute of Biosciences - University of Sao Paulo 1 0 0 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 1 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 0 1 0 0 0 1
Medical Genetic Team, CHRU Montpellier 0 1 0 0 0 0 1
National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center 0 1 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Ramesar Group, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, UCT/MRC Genomic and Precision Medicine Research Unit, University of Cape Town 1 0 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1

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