ClinVar Miner

Variants in gene ABCC2

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 total
52 7 256 36 42 360

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 43 5 187 26 22 269
Dubin-Johnson syndrome 14 2 94 16 27 150
not specified 0 0 0 6 13 19
Inborn genetic diseases 1 0 0 0 0 1
Pseudoxanthoma elasticum 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 40 2 184 6 12 244
Illumina Clinical Services Laboratory,Illumina 1 1 89 16 26 133
Invitae 1 2 0 24 22 49
OMIM 9 0 0 0 0 9
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 2 5 0 8
Baylor Genetics 2 0 3 0 0 5
GeneDx 2 0 0 1 0 3
PreventionGenetics, PreventionGenetics 0 0 0 0 3 3
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 1 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 0 0 2
Ambry Genetics 1 0 0 0 0 1
FirmaLab,FirmaLab 1 0 0 0 0 1
Mendelics 0 0 0 0 1 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
Department of Pediatrics,1st Faculty of Medicine, Charles University in Prague 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 0 1 0 0 0 1

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