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
358 16 33 30 27 2 426

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 352 4 3 1 19 2 375
not provided 19 12 27 10 1 0 67
not specified 0 0 4 17 5 0 26
Generalized arterial calcification of infancy 2 8 0 0 0 0 0 8
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: 21
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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
GeneDx 17 12 12 17 5 0 63
OMIM 25 0 0 0 0 0 25
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 9 4 0 0 13
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 3 0 5 0 1 0 9
Fulgent Genetics 5 0 1 0 0 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
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, Inc. 0 0 2 2 0 0 4
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
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 1 1 1 0 3
Baylor Miraca Genetics Laboratories, 1 0 0 1 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 1 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
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 0 0 0 0 0 1

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