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
443 60 1796 1874 235 2 4198

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 416 54 1221 1494 200 2 3228
JUP 25 6 571 380 34 0 963
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: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 425 46 1559 1856 226 0 4112
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
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
Baylor Genetics 2 0 1 0 0 0 3
KTest Genetics, KTest 2 1 0 0 0 0 3
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 Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 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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