ClinVar Miner

Variants in gene ABCC6

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 not provided total
110 134 202 85 62 2 535

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Pseudoxanthoma elasticum 87 119 148 12 32 2 382
not provided 35 14 57 59 34 0 187
not specified 0 0 4 17 5 0 26
Generalized arterial calcification of infancy 2 9 3 4 0 0 0 16
See cases 0 0 2 4 2 0 8
Pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Generalized arterial calcification of infancy 2 5 0 1 0 0 0 6
Abnormality of the eye 1 1 0 0 0 0 2
Cutis laxa; Papule 1 0 0 0 0 0 1
Finnish congenital nephrotic syndrome 0 0 0 1 0 0 1
Pseudoxanthoma elasticum, forme fruste 1 0 0 0 0 0 1
Pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PXE International 72 114 145 7 31 0 369
Invitae 7 1 19 44 33 0 104
GeneDx 17 12 12 19 5 0 65
CeGaT Praxis fuer Humangenetik Tuebingen 6 1 19 9 0 0 35
OMIM 25 0 0 0 0 0 25
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 3 0 5 0 1 0 9
Baylor Genetics 3 0 4 1 0 0 8
Lineagen, Inc 7 0 0 0 0 0 7
Mendelics 2 2 0 0 2 0 6
Fulgent Genetics,Fulgent Genetics 5 0 1 0 0 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 3 1 0 0 0 6
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 4 2 0 0 6
Reproductive Health Research and Development,BGI Genomics 0 0 1 4 1 0 6
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 0 3 0 0 0 5
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 5 0 0 5
Sharon lab,Hadassah-Hebrew University Medical Center 2 3 0 0 0 0 5
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 0 0 2 2 0 0 4
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 1 1 1 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 3
ISCA site 6 0 0 0 2 1 0 3
Genetic Services Laboratory, University of Chicago 1 0 1 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 2 0 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Gharavi Laboratory,Columbia University 0 0 2 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Blueprint Genetics 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
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 1 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 1 0 0 0 0 0 1

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