ClinVar Miner

Variants studied for Dyggve-Melchior-Clausen syndrome

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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 total
22 8 38 5 2 74

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
DYM 22 7 30 5 2 65
DYM, LOC130062481 0 0 8 0 0 8
​intergenic 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 34 5 2 41
OMIM 8 0 0 0 0 8
Centre for Human Genetics 4 1 2 0 0 7
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 0 0 0 0 3
Hacettepe Pediatric Genetics Laboratory, Hacettepe University 0 2 1 0 0 3
3billion 2 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 1
Institute of Human Genetics, University of Ulm 1 0 0 0 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
Department Of Genetics, Lifeline Super Speciality Hospital, Adoor. 0 1 0 0 0 1
HSP Biomedical Diagnostics Department, Hospital San Pedro 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
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 0 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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