ClinVar Miner

Variants in gene DYM

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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 total
35 23 152 128 47 350

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 17 11 89 120 47 271
Dyggve-Melchior-Clausen syndrome 24 9 31 5 2 68
Inborn genetic diseases 1 0 55 2 0 58
Smith-McCort dysplasia 0 0 23 4 1 28
DYM-related disorder 0 2 6 10 1 19
Connective tissue disorder 0 0 2 2 4 8
Smith-McCort dysplasia 1 3 0 3 1 1 8
not specified 0 0 3 2 1 6
Dyggve-Melchior-Clausen syndrome; Smith-McCort dysplasia 1 0 1 1 0 0 2
Prostate cancer 0 0 1 0 0 1
Schizophrenia 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 13 3 75 113 14 218
Ambry Genetics 1 0 55 2 0 58
GeneDx 2 1 4 0 35 42
Illumina Laboratory Services, Illumina 0 0 26 5 2 33
PreventionGenetics, part of Exact Sciences 0 2 6 10 1 19
Breakthrough Genomics, Breakthrough Genomics 0 0 0 4 11 15
Eurofins Ntd Llc (ga) 2 0 9 2 1 14
OMIM 10 0 0 0 0 10
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 0 2 2 4 8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 5 1 0 0 7
Centre for Human Genetics 4 1 2 0 0 7
CeGaT Center for Human Genetics Tuebingen 1 1 0 3 0 5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 2 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 0 0 0 0 3
3billion 3 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 3 0 0 0 3
Hacettepe Pediatric Genetics Laboratory, Hacettepe University 0 2 1 0 0 3
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 2 0 0 2
Fulgent Genetics, Fulgent Genetics 0 1 1 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 2 0 0 2
Baylor Genetics 0 0 1 0 0 1
Revvity Omics, Revvity 1 0 0 0 0 1
Institute of Human Genetics, University of Ulm 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 0 0 1
Bionano Laboratories 0 0 1 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Medgenome Labs Pvt Ltd 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 1 0 0 0 1
New York Genome Center 0 1 0 0 0 1
Reproduction Medicine Center, Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine 1 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 1
Department of Psychiatry, The University of Hong Kong 0 0 1 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 1

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