ClinVar Miner

Variants studied for cardioectodermal syndrome

Included ClinVar conditions (8):
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
451 91 2361 1993 238 2 4659

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DSP 424 83 1785 1613 203 2 3686
JUP 25 8 572 380 34 0 966
JUP, LOC130060847 0 0 3 0 1 0 4
DSP, LOC110121274 2 0 0 0 0 0 2
BMP6, DSP, SNRNP48 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 425 46 1559 1856 226 0 4112
All of Us Research Program, National Institutes of Health 17 33 893 322 17 0 1282
Fulgent Genetics, Fulgent Genetics 3 6 287 39 5 0 340
Illumina Laboratory Services, Illumina 0 0 95 9 5 0 109
OMIM 22 0 0 0 0 0 22
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 13 0 0 0 13
Genome-Nilou Lab 0 0 0 0 13 0 13
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 2 3 0 0 0 6
Mendelics 2 0 0 0 3 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 5 0 0 0 5
New York Genome Center 0 1 4 0 0 0 5
Molecular Genetics, Royal Melbourne Hospital 1 2 0 2 0 0 5
Baylor Genetics 2 0 1 0 0 0 3
KTest Genetics, KTest 2 1 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 0 0 0 0 2
Phosphorus, Inc. 0 0 1 0 1 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 1 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 1 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 0 1
Arcensus 0 1 0 0 0 0 1
KardioGenetik, Herz- und Diabeteszentrum NRW 0 1 0 0 0 0 1

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