ClinVar Miner

Variants in gene ABCC6

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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
372 22 38 75 57 2 502

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Pseudoxanthoma elasticum 355 9 5 5 21 2 380
not provided 30 13 32 52 34 0 153
not specified 0 0 4 17 5 0 26
Generalized arterial calcification of infancy 2 9 0 0 0 0 0 9
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
Pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste 1 0 0 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 346 4 0 0 19 0 369
Invitae 1 0 0 38 33 0 72
GeneDx 17 12 12 19 5 0 65
CeGaT Praxis fuer Humangenetik Tuebingen 5 1 15 8 0 0 29
OMIM 25 0 0 0 0 0 25
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 3 0 5 0 1 0 9
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
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
Baylor Genetics 1 0 0 1 0 0 2
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
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 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: University of Minnesota 1 0 0 0 0 0 1

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