ClinVar Miner

Variants studied for autosomal recessive inherited pseudoxanthoma elasticum

Included ClinVar conditions (5):
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
104 136 234 72 65 3 557

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ABCC6 100 134 226 71 65 3 543
ABCC6, LOC125146421 1 1 5 0 0 0 6
LOC102723692, XYLT1 0 0 1 1 0 0 2
ABCC1, ABCC6, BMERB1, CEP20, MARF1, MPV17L, MYH11, NDE1 1 0 0 0 0 0 1
ABCC1, ABCC6, CEP20, LOC112340382, LOC113939949, LOC121587532, LOC125146420, LOC125146421, LOC126862300, MYH11, NDE1 1 0 0 0 0 0 1
ABCC1, ABCC6, CEP20, LOC112340382, LOC121587532, LOC125146420, LOC125146421, LOC126862300, MYH11 1 0 0 0 0 0 1
ABCC2 0 1 0 0 0 0 1
XYLT1 0 0 1 0 0 0 1
XYLT2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PXE International 74 114 143 7 32 0 370
Fulgent Genetics, Fulgent Genetics 25 14 100 61 7 0 207
Genome-Nilou Lab 0 0 0 1 57 0 57
OMIM 25 0 0 0 0 0 25
Institute of Human Genetics, University of Leipzig Medical Center 6 0 1 0 0 0 7
Reproductive Health Research and Development, BGI Genomics 0 1 1 4 1 0 7
Mendelics 2 2 1 0 1 0 6
3billion 4 2 0 0 0 0 6
Baylor Genetics 3 0 1 1 0 0 5
Sharon lab, Hadassah-Hebrew University Medical Center 2 3 0 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 1 1 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 3 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 1 0 1 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 0 0 0 0 0 2
MGZ Medical Genetics Center 1 0 1 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 1 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Medical Genetics UMG, Mater Domini University Hospital/ Magna Graecia University of Catanzaro 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
DASA 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1

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