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
6 2 170 105 60 1 292

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not specified 0 0 57 67 58 0 173
Nonsyndromic Hearing Loss, Dominant 0 0 73 40 8 0 121
not provided 1 1 40 5 9 0 56
Deafness, autosomal dominant 4 5 1 6 0 0 1 13
Peripheral neuropathy, myopathy, hoarseness, and hearing loss 1 0 3 0 0 0 4
Charcot-Marie-Tooth disease 0 0 1 0 0 0 1
Deafness, autosomal dominant 4; Peripheral neuropathy, myopathy, hoarseness, and hearing loss 0 0 1 0 0 0 1
Hearing impairment 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: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 52 54 52 0 158
Illumina Clinical Services Laboratory,Illumina 0 0 74 40 8 0 122
GeneDx 1 1 8 11 26 0 47
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 20 3 14 0 37
PreventionGenetics 0 0 0 6 25 0 31
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 12 2 5 0 19
OMIM 6 0 0 0 0 0 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 3 3 0 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 6 0 0 0 6
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 4 0 0 1 5
Athena Diagnostics Inc 0 0 0 0 4 0 4
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 2 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 0 0 0 2
Ambry Genetics 0 0 1 0 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 1 0 1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 1 0 0 0 0 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
Kariminejad - Najmabadi Pathology & Genetics Center 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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