ClinVar Miner

Variants in gene combination MYH8, MYHAS

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Minimum submission review status: Collection method:
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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 total
1 0 242 80 68 352

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic uncertain significance likely benign benign total
not specified 0 136 12 14 160
not provided 1 44 58 66 156
Hecht syndrome 1 75 14 8 98
MYH8-related disorder 0 5 13 4 22
Carney complex - trismus - pseudocamptodactyly syndrome; Hecht syndrome 0 2 3 0 5
Carney complex - trismus - pseudocamptodactyly syndrome 1 3 0 0 4
Arthrogryposis, distal, type 1A 0 2 0 0 2
Neuromuscular disease 0 2 0 0 2
Inborn genetic diseases 0 1 0 0 1
Prostate cancer 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic uncertain significance likely benign benign total
Ambry Genetics 0 134 1 0 135
Illumina Laboratory Services, Illumina 0 66 13 8 87
GeneDx 1 14 25 40 80
Labcorp Genetics (formerly Invitae), Labcorp 0 0 25 25 50
Breakthrough Genomics, Breakthrough Genomics 0 3 14 20 37
PreventionGenetics, part of Exact Sciences 0 5 14 13 32
Genetic Services Laboratory, University of Chicago 0 3 10 9 22
CeGaT Center for Human Genetics Tuebingen 1 6 7 5 19
Eurofins Ntd Llc (ga) 0 12 0 0 12
Department of Pathology and Laboratory Medicine, Sinai Health System 0 7 0 0 7
Revvity Omics, Revvity 1 4 0 0 5
Clinical Genetics, Academic Medical Center 0 0 0 3 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 2 0 0 3
Fulgent Genetics, Fulgent Genetics 0 0 3 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 3 3
Genome-Nilou Lab 0 0 0 3 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 1 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 0 0 2
OMIM 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 1
Mendelics 0 0 0 1 1
Richard Lifton Laboratory, Yale University School of Medicine 0 1 0 0 1
Science for Life laboratory, Karolinska Institutet 0 1 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 1 0 0 1
Dr.Nikuei Genetic Center 0 0 1 0 1

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