ClinVar Miner

Variants in gene MYO6

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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
21 15 221 85 64 1 319

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Autosomal dominant nonsyndromic deafness 22 9 1 98 25 50 0 182
Deafness, autosomal recessive 37 3 0 147 11 12 0 172
not specified 0 1 47 37 24 1 103
not provided 5 4 25 14 19 0 61
Nonsyndromic Hearing Loss, Dominant 0 0 6 7 1 0 14
Nonsyndromic Hearing Loss, Recessive 0 0 6 7 1 0 14
Rare genetic deafness 4 8 0 0 0 0 12
Hearing impairment 0 2 9 0 0 0 11
Nonsyndromic hearing loss and deafness 0 2 0 1 2 0 5
none provided 0 0 0 0 5 0 5
Inborn genetic diseases 1 0 1 0 0 0 2
Autosomal dominant nonsyndromic deafness 22; Deafness, autosomal recessive 37 1 0 0 0 0 0 1
Male infertility; Infertility 0 0 1 0 0 0 1
Sensorineural deafness with hypertrophic cardiomyopathy 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 152 42 51 0 183
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 4 9 44 29 21 1 108
GeneDx 4 4 6 10 6 0 30
Invitae 1 0 2 10 15 0 28
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 13 1 6 0 21
PreventionGenetics, PreventionGenetics 0 0 0 1 10 0 11
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 3 1 5 0 10
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center 0 2 8 0 0 0 10
Athena Diagnostics Inc 0 0 3 1 5 0 9
OMIM 7 0 0 0 0 0 7
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 5 0 0 0 5
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 2 2 0 0 4
Laboratory of Prof. Karen Avraham,Tel Aviv University 4 0 0 0 0 0 4
ClinGen Hearing Loss Variant Curation Expert Panel 0 1 0 1 2 0 4
Ambry Genetics 1 0 1 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 0 0 0 2
Mendelics 0 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 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 0 0 1 0 0 0 1
Hereditary Research Laboratory, Bethlehem University 1 0 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital 1 0 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 1 0 0 0 0 1

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