ClinVar Miner

Variants in gene MYH14

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
16 8 639 404 239 2 1168

Condition and significance breakdown #

Total conditions: 13
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 11 4 406 345 231 0 923
Autosomal dominant nonsyndromic hearing loss 4A 6 3 145 29 54 1 236
not specified 0 0 84 70 61 0 206
Inborn genetic diseases 0 0 73 1 0 0 74
MYH14-related condition 0 0 22 31 7 0 60
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 1 0 25 0 15 0 41
Autosomal dominant nonsyndromic hearing loss 4A; Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 0 0 9 2 1 1 13
Hearing impairment 0 0 7 0 1 0 8
Nonsyndromic Hearing Loss, Dominant 0 0 6 0 0 0 6
See cases 0 1 1 0 0 0 2
Charcot-Marie-Tooth disease 0 0 1 0 0 0 1
Primary dilated cardiomyopathy 0 0 1 0 0 0 1
Sensorineural hearing loss disorder; Progressive sensorineural hearing impairment; Impaired vibration sensation in the lower limbs; EMG abnormality; Peripheral axonal neuropathy; EMG: axonal abnormality; Motor polyneuropathy; Peripheral neuropathy 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 51
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 9 2 221 195 106 0 533
GeneDx 3 0 157 139 162 0 461
Illumina Laboratory Services, Illumina 0 0 136 29 49 0 214
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 60 60 54 0 174
PreventionGenetics, part of Exact Sciences 0 0 22 37 32 0 91
CeGaT Center for Human Genetics Tuebingen 1 1 29 44 11 0 86
Ambry Genetics 0 0 73 1 0 0 74
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 20 4 16 0 40
Eurofins Ntd Llc (ga) 0 0 20 3 14 0 37
Clinical Genetics, Academic Medical Center 0 0 6 8 16 0 30
Athena Diagnostics Inc 0 0 3 2 19 0 24
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 5 10 3 0 18
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 14 2 0 0 16
Mayo Clinic Laboratories, Mayo Clinic 0 0 16 0 0 0 16
Genome-Nilou Lab 0 0 0 0 15 0 15
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 4 2 6 0 12
Fulgent Genetics, Fulgent Genetics 0 0 7 2 1 0 10
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 10 0 0 0 10
Baylor Genetics 0 0 9 0 0 0 9
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 8 0 8
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 7 0 0 0 7
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 0 0 6 0 1 0 7
OMIM 6 0 0 0 0 0 6
Revvity Omics, Revvity 0 1 4 1 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 4 1 0 1 6
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 3 3 0 0 6
Miami Human Genetics, University Of Miami Miller School Of Medicine 0 2 3 0 0 0 5
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 5 0 0 5
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 2 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 2 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 2 0 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 2 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 0 1 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Mendelics 0 0 1 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Santos-Cortez Lab, University of Colorado School of Medicine 0 1 0 0 0 0 1
Wangler Lab, Baylor College of Medicine 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 1 0 0 0 0 0 1
Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 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.