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 total
138 170 350 182 86 768

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not specified 0 1 118 138 84 319
Deafness, autosomal recessive 2; Usher syndrome, type 1 28 83 119 13 0 243
not provided 21 17 103 7 6 152
Nonsyndromic Hearing Loss, Dominant 0 0 77 55 10 142
Retinitis pigmentosa-deafness syndrome 0 0 77 56 9 142
Nonsyndromic Hearing Loss, Recessive 0 0 77 55 9 141
Usher syndrome, type 1 70 58 2 0 3 127
Deafness, autosomal recessive 2 24 8 1 0 0 33
Deafness, autosomal dominant 11; Deafness, autosomal recessive 2; Usher syndrome, type 1 9 2 9 0 0 20
Usher syndrome 3 10 1 1 0 15
Usher syndrome, type 1B 11 1 0 0 0 12
Deafness, autosomal dominant 11 5 1 4 0 0 10
MYO7A-Related Disorders 3 4 3 0 0 10
Deafness 7 0 0 0 0 7
Retinal dystrophy 0 3 3 0 0 6
Retinitis pigmentosa 1 2 3 0 0 6
Inborn genetic diseases 3 1 1 0 0 5
Nonsyndromic hearing loss and deafness 0 0 2 0 2 4
Hearing impairment 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 62 47 115 106 72 402
Counsyl 28 89 119 13 0 249
Illumina Clinical Services Laboratory,Illumina 3 4 81 56 10 153
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 8 1 72 13 22 116
GeneDx 15 11 20 28 27 101
PreventionGenetics 0 0 0 2 29 31
OMIM 20 0 1 0 0 21
Fulgent Genetics 9 2 8 0 0 19
CeGaT Praxis fuer Humangenetik Tuebingen 0 3 14 1 0 18
NIHR Bioresource Rare Diseases,University of Cambridge 3 10 0 0 0 13
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 6 1 3 11
GeneReviews 9 1 0 0 0 10
Center for Statistical Genetics,Baylor College of Medicine 7 0 1 0 0 8
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 1 1 5 0 0 7
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 1 4 3 0 0 7
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 3 2 6
Hereditary Research Laboratory,Bethlehem University 6 0 0 0 0 6
ClinGen Hearing Loss Variant Curation Expert Panel, 0 0 3 1 2 6
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 4 2 0 0 0 6
Ambry Genetics 3 1 1 0 0 5
National Institute on Deafness and Communication Disorders,National Institutes of Health 5 0 0 0 0 5
Department of Ophthalmology and Visual Sciences Kyoto University 0 1 0 2 0 3
Laboratory of Prof. Karen Avraham,Tel Aviv University 3 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 2 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 0 0 0 3 3
Athena Diagnostics Inc 0 0 0 1 1 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 1 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 2 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 2 0 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 2 0 0 0 2
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 2 0 0 2
Molecular Diagnostics Laboratory,M Health: University of Minnesota 2 0 0 0 0 2
Centre de Biotechnologie de Sfax,Université de Sfax 1 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 1
Hereditary Risk Evalutation Team,Medical School Hannover 0 0 1 0 0 1
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 0 0 1

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