ClinVar Miner

Variants in gene ZNF469

Minimum submission review status: Collection method:
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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
25 19 312 223 83 2 554

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not specified 0 0 87 167 67 0 312
Brittle cornea syndrome 1 4 0 187 55 27 2 274
not provided 4 11 82 33 4 0 124
Keratoconus 1 17 8 0 0 8 0 33
Myopia; Soft skin; Poor wound healing; Striae distensae; Joint hypermobility; Gastroesophageal reflux; Thoracic scoliosis; Spontaneous hematomas 0 0 3 0 0 0 3
Keratoconus 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 1 10 93 166 60 0 330
Illumina Clinical Services Laboratory,Illumina 0 0 175 51 26 0 252
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 44 29 0 0 73
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 3 1 34 1 25 0 64
Willoughby Group, Queen's University Belfast 17 8 0 0 8 0 33
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 2 18 0 20
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 18 0 18
Fulgent Genetics,Fulgent Genetics 0 0 11 0 0 0 11
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 4 3 0 8
OMIM 4 0 0 0 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 3 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 2 0 0 3
Genetic Services Laboratory, University of Chicago 0 0 2 0 0 0 2
Mendelics 0 0 0 0 2 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 1 0 2
Institute of Human Genetics,Cologne University 0 0 1 0 0 0 1
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 1 0 0 1
Reproductive Health Research and Development,BGI Genomics 0 0 1 0 0 0 1

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