ClinVar Miner

Variants in gene MYH14

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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
7 3 279 140 94 2 463

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Deafness, autosomal dominant 4 5 1 140 29 49 1 223
not specified 0 0 73 73 60 0 196
not provided 2 2 60 57 58 0 170
Peripheral neuropathy, myopathy, hoarseness, and hearing loss 1 0 18 0 0 0 19
none provided 0 0 2 1 11 0 14
Hearing impairment 0 0 6 1 1 0 8
Nonsyndromic Hearing Loss, Dominant 0 0 6 0 0 0 6
Deafness, autosomal dominant 4; Peripheral neuropathy, myopathy, hoarseness, and hearing loss 0 0 1 0 0 1 2
Charcot-Marie-Tooth disease 0 0 1 0 0 0 1
Inborn genetic diseases 0 0 1 0 0 0 1
Sensorineural hearing loss; 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: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 137 29 49 0 215
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 61 60 54 0 175
Invitae 1 0 1 45 42 0 89
GeneDx 1 1 8 13 38 0 61
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 20 3 14 0 37
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 19 3 12 0 34
PreventionGenetics, PreventionGenetics 0 0 0 6 25 0 31
Athena Diagnostics Inc 0 0 3 2 18 0 23
CeGaT Praxis fuer Humangenetik Tuebingen 1 1 15 5 0 0 22
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 10 0 0 0 10
Baylor Genetics 0 0 8 0 0 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 5 1 1 0 7
OMIM 6 0 0 0 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
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 2 0 0 0 3
Integrated Genetics/Laboratory Corporation of America 0 0 2 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 2 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 0 1
Ambry Genetics 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
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 1 0 0 0 1
Santos-Cortez Lab,University of Colorado School of Medicine 0 1 0 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

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