ClinVar Miner

Variants in gene MYO7A

Minimum submission review status: Collection method:
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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
183 196 530 351 160 2 1133

Condition and significance breakdown #

Total conditions: 21
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 60 30 183 213 116 0 557
not specified 0 1 134 140 84 0 337
Deafness, autosomal recessive 2 39 18 215 29 18 0 316
Usher syndrome type 1 32 21 193 28 34 0 301
Deafness, autosomal dominant 11 5 3 144 56 56 0 264
Deafness, autosomal recessive 2; Usher syndrome type 1 22 77 119 13 0 0 231
Rare genetic deafness 62 43 0 0 0 0 105
Retinal dystrophy 15 16 20 0 0 0 51
Deafness, autosomal dominant 11; Deafness, autosomal recessive 2; Usher syndrome type 1 9 2 9 0 0 1 21
Usher syndrome 5 14 2 1 0 0 21
MYO7A-Related Disorders 3 4 5 0 0 0 12
Usher syndrome, type 1B 11 1 0 0 0 0 12
Deafness 7 0 0 0 0 0 7
Retinitis pigmentosa 1 2 3 0 0 0 6
Inborn genetic diseases 3 1 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
Nonsyndromic hearing loss and deafness 0 1 2 0 2 0 5
Retinitis pigmentosa-deafness syndrome 0 0 3 2 0 0 5
Hearing impairment 0 0 1 0 0 0 1
MYO7A-related disorder 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 49
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 62 45 131 108 72 0 418
Invitae 36 12 78 193 52 0 371
Illumina Clinical Services Laboratory,Illumina 3 4 215 92 56 0 267
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
Blueprint Genetics 15 13 17 0 0 0 45
CeGaT Praxis fuer Humangenetik Tuebingen 9 4 25 4 0 0 42
PreventionGenetics,PreventionGenetics 0 0 0 2 29 0 31
Mendelics 8 5 4 0 5 0 22
OMIM 20 0 1 0 0 0 21
Athena Diagnostics Inc 0 1 2 4 12 0 19
Fulgent Genetics,Fulgent Genetics 9 2 8 0 0 0 19
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 6 1 9 0 17
Sharon lab,Hadassah-Hebrew University Medical Center 11 3 0 0 0 0 14
ClinGen Hearing Loss Variant Curation Expert Panel 2 5 4 1 2 0 14
NIHR Bioresource Rare Diseases, University of Cambridge 3 10 0 0 0 0 13
GeneReviews 9 1 0 0 0 0 10
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 3 4 3 0 0 0 9
Baylor Genetics 4 4 0 0 0 0 8
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
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 3 1 1 0 0 0 5
National Institute on Deafness and Communication Disorders,National Institutes of Health 5 0 0 0 0 0 5
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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 2 0 0 0 0 3
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 1 0 2
Mayo Clinic Genetic Testing 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
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Molecular Diagnostics Laboratory, M Health: University of Minnesota 2 0 0 0 0 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
Centre de Biotechnologie de Sfax,Université de Sfax 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
National Institute of Sensory Organs,National Hospital Organization Tokyo Medical Center 0 1 0 0 0 0 1

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