ClinVar Miner

Variants in gene MYO7A

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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 not provided total
253 285 815 600 163 3 1721

Condition and significance breakdown #

Total conditions: 28
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 155 58 398 480 116 0 1140
Usher syndrome type 1 35 70 194 29 34 1 354
not specified 0 1 143 146 86 0 354
Deafness, autosomal recessive 2 39 18 218 29 18 0 319
Deafness, autosomal dominant 11 7 6 158 57 56 0 281
Usher syndrome, type 1B 21 6 198 19 37 0 280
Deafness, autosomal recessive 2; Usher syndrome type 1 22 78 120 13 0 0 233
Rare genetic deafness 60 44 0 0 0 0 104
Retinal dystrophy 15 16 20 0 0 0 51
Usher syndrome 7 19 8 1 0 0 33
Autosomal recessive nonsyndromic deafness 0 26 0 0 0 0 26
Deafness, autosomal dominant 11; Deafness, autosomal recessive 2; Usher syndrome type 1 9 2 9 0 0 1 21
Hearing impairment 0 3 16 0 0 0 19
MYO7A-Related Disorders 4 4 6 0 0 0 14
none provided 0 0 2 3 7 0 12
Deafness 7 0 0 0 0 0 7
Nonsyndromic hearing loss and deafness 0 2 3 0 2 0 7
Retinitis pigmentosa 1 2 3 0 0 0 6
Inborn genetic diseases 4 0 1 0 0 0 5
Nonsyndromic Hearing Loss, Dominant 0 0 3 2 0 0 5
Nonsyndromic Hearing Loss, Recessive 0 0 3 2 0 0 5
Retinitis pigmentosa-deafness syndrome 0 0 3 2 0 0 5
Usher syndrome type 2 3 0 0 0 0 0 3
Hearing loss 1 1 0 0 0 0 2
Bilateral sensorineural hearing impairment 0 1 0 0 0 0 1
MYO7A-related disorder 0 0 0 0 0 1 1
Pendred syndrome 0 0 1 0 0 0 1
Sensorineural hearing loss 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 67
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 141 35 306 460 52 0 994
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 62 48 140 114 72 0 436
Natera, Inc. 12 5 198 19 37 0 271
Illumina Clinical Services Laboratory,Illumina 3 4 216 92 56 0 268
Counsyl 29 89 120 13 0 0 251
GeneDx 17 11 20 48 82 0 178
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 8 1 72 13 22 0 116
Myriad Women's Health, Inc. 0 48 0 0 0 0 48
Blueprint Genetics 15 13 17 0 0 0 45
CeGaT Praxis fuer Humangenetik Tuebingen 9 5 25 6 0 0 45
PreventionGenetics, PreventionGenetics 0 0 0 2 29 0 31
Athena Diagnostics Inc 0 1 7 5 14 0 27
University of Washington Center for Mendelian Genomics, University of Washington 0 26 1 0 0 0 27
ClinGen Hearing Loss Variant Curation Expert Panel 2 10 11 1 2 0 26
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 8 4 10 0 23
Mendelics 8 5 4 0 5 0 22
OMIM 20 0 1 0 0 0 21
Baylor Genetics 6 5 10 0 0 0 21
Fulgent Genetics,Fulgent Genetics 9 2 8 0 0 0 19
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center 0 3 16 0 0 0 19
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 9 0 1 0 12
GeneReviews 9 1 0 0 0 0 10
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 7 3 0 0 0 0 10
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 3 4 3 0 0 0 9
Center for Statistical Genetics, Columbia University 7 0 1 0 0 0 8
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 1 1 5 0 0 0 7
National Institute on Deafness and Communication Disorders,National Institutes of Health 5 1 1 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
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
Ambry Genetics 4 0 1 0 0 0 5
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 2 2 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 0 2 2 1 0 0 5
Molecular Genetics Laboratory,Institute for Ophthalmic Research 4 0 0 0 0 0 4
Laboratory of Prof. Karen Avraham,Tel Aviv University 4 0 0 0 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 3 0 0 0 0 4
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 0 3 0 0 0 3
Department of Ophthalmology and Visual Sciences Kyoto University 0 1 0 2 0 0 3
SIB Swiss Institute of Bioinformatics 0 0 0 0 3 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 2 0 0 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 1 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 2
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 2 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 0 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 2 0 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 0 0 0 0 0 2
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 0 0 0 0 2 0 2
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
Integrated Genetics/Laboratory Corporation of America 1 0 0 0 0 0 1
Centre de Biotechnologie de Sfax,Université de Sfax 1 0 0 0 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 1 0 0 0 0 1
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences 1 0 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 1
Hereditary Risk Evalutation Team,Medical School Hannover 0 0 1 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 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
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
New York Genome Center 0 1 0 0 0 0 1
Nilou-Genome Lab 0 0 0 1 0 0 1

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