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 5 200 119 34 346

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Nephronophthisis 14 1 2 185 83 30 297
not provided 1 1 24 30 1 57
not specified 0 0 0 10 18 26
Abnormality of 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: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 0 0 184 106 30 320
PreventionGenetics, PreventionGenetics 0 0 0 9 15 24
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 15 2 4 21
GeneDx 1 1 4 0 0 6
OMIM 3 0 0 0 0 3
Baylor Genetics 0 1 2 0 0 3
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 3 0 0 3
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 3 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 2 0 0 0 2
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 1
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 1 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 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

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