ClinVar Miner

Variants in gene ANK3

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Minimum submission review status: Collection method:
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Gene type:
ClinVar version:

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
1 2 139 47 13 199

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not specified 0 0 75 43 7 122
not provided 0 0 66 6 6 78
Mental retardation, autosomal recessive 37 1 1 15 0 0 17
Abnormality of brain morphology 0 1 0 0 0 1
Autistic disorder of childhood onset 0 0 1 0 0 1
Inborn genetic diseases 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Genetic Services Laboratory, University of Chicago 0 0 71 42 4 117
GeneDx 0 0 59 1 0 60
Fulgent Genetics,Fulgent Genetics 0 0 13 0 0 13
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 2 6 0 8
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 3 0 3 6
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 6 6
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 3 1 0 4
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 4 0 0 4
OMIM 1 0 1 0 0 2
Ambry Genetics 0 0 1 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 1 0 0 0 1

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