ClinVar Miner

Variants in gene MYO15A

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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
92 35 292 161 72 1 552

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not specified 0 2 101 137 72 0 288
Nonsyndromic Hearing Loss, Recessive 0 0 129 24 1 0 154
not provided 18 11 78 7 5 0 117
Deafness, autosomal recessive 3 57 16 14 0 5 1 91
Nonsyndromic hearing loss and deafness 21 7 0 0 0 0 28
Inborn genetic diseases 3 2 0 0 0 0 5
Congenital sensorineural hearing impairment 1 1 1 0 0 0 3
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

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 21 7 86 92 69 0 275
Illumina Clinical Services Laboratory,Illumina 1 3 134 24 1 0 163
GeneDx 11 8 16 43 20 0 98
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 6 1 52 8 19 0 86
PreventionGenetics 0 0 0 9 25 0 34
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 2 20 2 5 0 29
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 7 5 0 0 14
OMIM 13 0 0 0 0 0 13
Division of Human Genetics,Children's Hospital of Philadelphia 4 1 5 0 0 1 11
National Institute on Deafness and Communication Disorders,National Institutes of Health 9 1 1 0 0 0 11
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 5 6 0 0 0 0 11
Center for Statistical Genetics,Baylor College of Medicine 9 0 0 0 0 0 9
Laboratory of Prof. Karen Avraham,Tel Aviv University 7 0 0 0 0 0 7
Ambry Genetics 3 2 0 0 0 0 5
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
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 1 0 2 0 0 0 3
Fulgent Genetics 2 0 1 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 0 1 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 1 0 0 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 1 1 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 2 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 2 0 0 0 0 0 2
Athena Diagnostics Inc 0 0 1 0 0 0 1
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
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

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