ClinVar Miner

Variants in gene MYO3A

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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
14 11 175 74 53 265

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Deafness, autosomal recessive 30 7 3 112 11 19 149
not specified 0 1 43 51 46 133
not provided 7 3 32 25 24 85
Nonsyndromic Hearing Loss, Recessive 0 0 8 1 0 9
Hearing impairment 0 1 2 0 0 3
Rare genetic deafness 0 3 0 0 0 3
Nonsyndromic hearing loss and deafness 1 0 0 0 0 1
Sensorineural hearing loss 1 0 0 0 0 1
nonsyndromic sensorineural hearing loss 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 115 12 17 144
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 3 40 38 43 124
GeneDx 0 1 7 20 23 51
Invitae 4 1 0 16 21 42
PreventionGenetics, PreventionGenetics 0 0 0 0 27 27
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 0 14 5 2 23
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 3 7 0 5 15
Athena Diagnostics Inc 0 0 3 2 5 10
Fulgent Genetics,Fulgent Genetics 0 0 5 0 0 5
OMIM 3 0 0 0 0 3
Mendelics 1 0 0 0 2 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 3 0 0 3
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 2 1 0 0 0 3
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center 0 1 2 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 1 0 2
Baylor Genetics 0 0 1 0 0 1
Lineagen, Inc 1 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 1
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences 1 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 1
Centre for Arab Genomic Studies,Sheikh Hamdan Award for Medical Sciences 1 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 0 0 0 1
Laboratory of Human Genetics, Institute of Biosciences - University of Sao Paulo 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 1

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