ClinVar Miner

Variants in gene ANKRD11

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Minimum submission review status: Collection method:
Minimum conflict level:
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 not provided total
116 25 77 108 39 2 343

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Autism spectrum disorder 1 0 35 90 26 0 152
not provided 65 16 27 19 18 0 143
KBG syndrome 40 6 7 2 1 2 57
not specified 0 0 6 10 10 0 26
Inborn genetic diseases 21 0 1 0 0 0 22
See cases 3 0 0 0 0 0 3
Astigmatism; Epicanthus; Cryptorchidism; Hypertelorism; Esotropia; Global developmental delay; Retrognathia; Hypermetropia; Wide nasal bridge; Intellectual disability 1 0 0 0 0 0 1
Global developmental delay; Ptosis; Clinodactyly of the 5th finger; Conductive hearing impairment; Intellectual disability; Short foot; Short palm; Unilateral cryptorchidism 0 1 0 0 0 0 1
Global developmental delay; Seizures; Behavioral abnormality; Macrocephalus; Hand tremor 0 0 1 0 0 0 1
Moderate intellectual deficiency 0 1 0 0 0 0 1
Neurodevelopmental disorder 0 1 0 0 0 0 1
Seizures 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ambry Genetics 22 0 36 90 26 0 174
GeneDx 63 11 14 5 6 0 99
Athena Diagnostics Inc 0 0 8 8 25 0 41
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 11 1 0 13
Baylor Miraca Genetics Laboratories, 12 0 0 0 0 0 12
Invitae 7 0 4 0 1 0 12
Genetic Services Laboratory, University of Chicago 2 0 4 3 1 0 10
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 4 1 0 0 0 0 5
OMIM 4 0 0 0 0 0 4
HudsonAlpha Institute for Biotechnology 3 1 0 0 0 0 4
Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes 2 2 0 0 0 0 4
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille 3 1 0 0 0 0 4
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 2 0 0 0 4
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 2 1 0 0 3
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, Inc. 3 0 0 0 0 0 3
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 3 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 2 0 0 0 3
Genome Diagnostics Laboratory,University Medical Center Utrecht 1 0 0 1 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 0 1 0 0 0 2
Fulgent Genetics 1 0 1 0 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 1 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 2 0 0 0 0 2
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 2 0 0 0 0 0 2
Mendelics 1 0 0 0 0 0 1
GeneReviews 1 0 0 0 0 0 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
Lyon Laboratory, Cold Spring Harbor Laboratory 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 1 0 0 0 0 0 1
Laboratory of Molecular Genetics,CHU RENNES 0 1 0 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 1 0 0 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 0 1
Laboratoire de Cytogenetique,Hospices Civils de Lyon 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 1 0 0 1

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