ClinVar Miner

Variants in gene ZNF423

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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
4 4 433 378 53 833

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Nephronophthisis 14 1 2 393 352 40 781
not provided 1 0 42 33 16 91
Inborn genetic diseases 0 0 40 0 0 40
ZNF423-related condition 0 0 3 29 3 35
not specified 0 0 1 10 26 33
Abnormal brain morphology 0 2 0 0 0 2
Joubert syndrome 19 2 0 0 0 0 2
Chronic kidney disease 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 0 0 391 355 40 786
PreventionGenetics, part of Exact Sciences 0 0 3 37 18 58
Ambry Genetics 0 0 40 0 0 40
CeGaT Center for Human Genetics Tuebingen 0 0 8 20 2 30
GeneDx 1 0 14 0 13 28
Genome-Nilou Lab 0 0 0 0 25 25
Eurofins Ntd Llc (ga) 0 0 15 2 4 21
Clinical Genetics, Academic Medical Center 0 0 0 3 7 10
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 10 0 10
Revvity Omics, Revvity 0 0 9 0 0 9
Fulgent Genetics, Fulgent Genetics 0 0 4 3 0 7
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 3 2 5
OMIM 3 0 0 0 0 3
Baylor Genetics 0 1 2 0 0 3
Genetic Services Laboratory, University of Chicago 0 0 0 3 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 2 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 2 0 0 0 2
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 1 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 1
Gharavi Laboratory, Columbia University 0 0 1 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 0 1 0 0 1
3billion 0 0 1 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 1

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