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
5 6 169 126 57 322

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 2 3 82 83 50 209
not specified 0 0 74 43 9 123
Mental retardation, autosomal recessive 37 3 2 31 1 1 37
Intellectual disability 0 0 2 8 0 10
Abnormality of brain morphology 0 1 0 0 0 1
Autistic disorder of childhood onset 0 0 1 0 0 1
Global developmental delay 0 0 1 0 0 1
Inborn genetic diseases 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 0 0 7 73 44 124
Genetic Services Laboratory, University of Chicago 0 0 69 41 7 117
GeneDx 0 1 59 1 0 61
CeGaT Praxis fuer Humangenetik Tuebingen 1 1 13 6 0 21
Fulgent Genetics,Fulgent Genetics 0 0 13 0 0 13
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 8 0 9
Baylor Genetics 0 0 8 0 0 8
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 2 6 0 8
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 6 6
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 3 0 3 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 5 0 0 5
OMIM 2 0 2 0 0 4
Mendelics 1 0 1 1 1 4
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 3 1 0 4
New York Genome Center 0 0 4 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 1 0 0 0 1
Ambry Genetics 0 0 1 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 1 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 1

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