ClinVar Miner

Variants in gene ZNF469

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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
25 18 295 214 83 532

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not specified 0 0 87 167 67 312
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility 4 0 187 53 27 270
not provided 4 10 63 22 4 97
Keratoconus 1 17 8 0 0 8 33
Myopia; Soft skin; Poor wound healing; Striae distensae; Joint hypermobility; Gastroesophageal reflux; Thoracic scoliosis; Spontaneous hematomas 0 0 3 0 0 3

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 1 9 93 166 60 329
Illumina Clinical Services Laboratory,Illumina 0 0 175 51 26 252
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 3 1 34 1 25 64
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 25 18 0 43
Willoughby Group, Queen's University Belfast 17 8 0 0 8 33
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 2 18 20
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 18 18
Fulgent Genetics 0 0 11 0 0 11
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 4 3 8
OMIM 4 0 0 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 3 0 0 3
Genetic Services Laboratory, University of Chicago 0 0 2 0 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 1 2
Institute of Human Genetics,Cologne University 0 0 1 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 1
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 1 0 1

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