ClinVar Miner

Variants in gene MYO15A

See also:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
121 69 456 250 108 1 812

Condition and significance breakdown #

Total conditions: 13
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Deafness, autosomal recessive 3 77 30 281 16 36 1 418
not specified 0 2 129 158 73 0 337
not provided 26 15 92 132 66 0 289
Rare genetic deafness 23 13 0 0 0 0 36
Hearing impairment 3 7 8 0 0 0 18
Inborn genetic diseases 6 2 3 0 0 0 11
Nonsyndromic Hearing Loss, Recessive 0 0 7 0 0 0 7
Autosomal recessive nonsyndromic deafness 0 6 0 0 0 0 6
Congenital sensorineural hearing impairment 1 1 1 0 0 0 3
Alport syndrome 0 0 1 0 0 0 1
Deafness, with smith-magenis syndrome 1 0 0 0 0 0 1
Global developmental delay; Seizures; Low-set ears; Agenesis of maxillary lateral incisor; Congenital diaphragmatic hernia; Low posterior hairline; Infantile axial hypotonia; Severe global developmental delay; Profound global developmental delay; Cleft palate 0 0 0 1 0 0 1
Nonsyndromic hearing loss and deafness; Rare genetic deafness 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 46
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 24 13 115 113 69 0 334
Illumina Clinical Services Laboratory,Illumina 1 3 262 11 24 0 301
Invitae 5 1 2 99 61 0 168
GeneDx 14 10 16 67 26 0 133
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 6 1 52 8 19 0 86
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 3 21 4 16 0 44
PreventionGenetics, PreventionGenetics 0 0 0 9 25 0 34
CeGaT Praxis fuer Humangenetik Tuebingen 1 2 14 14 0 0 31
Athena Diagnostics Inc 0 1 9 6 8 0 24
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center 3 7 9 0 0 0 19
National Institute on Deafness and Communication Disorders,National Institutes of Health 10 2 5 0 0 0 17
Laboratory of Prof. Karen Avraham,Tel Aviv University 16 1 0 0 0 0 17
OMIM 13 0 0 0 0 0 13
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 5 6 2 0 0 0 13
Baylor Genetics 0 0 11 0 0 0 11
Ambry Genetics 6 2 3 0 0 0 11
Division of Human Genetics,Children's Hospital of Philadelphia 4 1 5 0 0 1 11
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 2 8 0 0 0 0 10
Center for Statistical Genetics, Columbia University 9 0 0 0 0 0 9
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 8 0 0 0 8
Mendelics 2 0 2 2 0 0 6
University of Washington Center for Mendelian Genomics, University of Washington 0 6 0 0 0 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 5 0 5
Hereditary Research Laboratory, Bethlehem University 4 0 0 0 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 2 1 0 0 0 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 1 0 2 0 0 0 3
Fulgent Genetics,Fulgent Genetics 2 0 1 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 1 1 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 0 1 0 0 0 3
Laboratory of Molecular Genetics,Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine 3 0 0 0 0 0 3
Molecular Diagnosis Center for Deafness 3 0 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 1 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 2 0 0 2
Hereditary Hearing Loss Research Unit,University of Madras 1 1 0 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 1 0 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 2 0 0 0 0 0 2
Neurogenetic Laboratory,Second Faculty of Medicine, Charles University 0 1 1 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Laboratory of Molecular Genetics,National Institutes of Health 0 1 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 1 0 0 1
Santos-Cortez Lab,University of Colorado School of Medicine 0 1 0 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 0 1 0 0 1
The Genetic Institute, Ha'emek Medical center,Ha'emek Medical Center 1 0 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.