ClinVar Miner

Variants studied for peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome

Included ClinVar conditions (2):
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
1 0 37 3 16 1 58

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic uncertain significance likely benign benign not provided total
MYH14 1 37 3 16 1 58

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic uncertain significance likely benign benign not provided total
Genome-Nilou Lab 0 0 0 15 0 15
Fulgent Genetics, Fulgent Genetics 0 7 2 1 0 10
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 8 0 0 0 8
Baylor Genetics 0 6 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 3 0 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 2 0 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 2 0 0 0 2
OMIM 1 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 1 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 1
New York Genome Center 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 1
Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo 0 1 0 0 0 1

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