ClinVar Miner

Variants in gene WDR62

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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
28 11 170 87 43 280

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not specified 0 0 27 72 42 120
not provided 8 3 80 7 9 104
Primary autosomal recessive microcephaly 2 19 8 32 4 16 76
Primary Microcephaly 2 With or Without Cortical Malformations 0 0 55 12 2 69
Microcephaly, Cortical Malformations, and Intellectual Disability 0 0 3 0 0 3
Primary Microcephaly, Recessive 0 0 3 0 0 3
Abnormality of neuronal migration 2 0 0 0 0 2
Inborn genetic diseases 1 1 0 0 0 2
See cases 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
Genetic Services Laboratory, University of Chicago 5 6 53 27 27 118
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 3 0 54 7 16 80
GeneDx 6 2 9 51 9 77
Illumina Clinical Services Laboratory,Illumina 0 0 58 12 2 72
Athena Diagnostics Inc 0 0 6 3 21 30
PreventionGenetics 0 0 0 0 19 19
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 15 1 0 17
OMIM 13 0 0 0 0 13
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 6 7
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 3 4 7
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 5 1 6
Fulgent Genetics 1 0 3 1 0 5
Ambry Genetics 1 1 0 0 0 2
Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire 2 0 0 0 0 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 0 2 0 0 0 2
Institute of Human Genetics,University of Goettingen 0 0 1 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 1 1
ISCA site 6 0 0 1 0 0 1

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