ClinVar Miner

Variants studied for Dyggve-Melchior-Clausen disease

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 total
24 11 40 5 2 78

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 24 10 32 5 2 69
DYM, LOC130062481 0 0 8 0 0 8
​intergenic 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 0 1 0 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
Fulgent Genetics, Fulgent Genetics 0 1 1 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
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
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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