ClinVar Miner

Variants in gene ANKLE2

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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
8 5 125 85 80 285

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 1 1 33 57 78 161
Inborn genetic diseases 0 1 94 18 1 114
Microcephaly 16, primary, autosomal recessive 8 2 11 0 10 29
ANKLE2-related disorder 0 0 0 19 1 20
not specified 0 0 3 2 1 6
Microcephaly 1 1 0 0 0 2
See cases 0 0 0 2 0 2
Vanishing white matter disease; Intellectual disability; Hypotonia 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 0 0 29 30 69 128
Ambry Genetics 0 1 94 18 1 114
Breakthrough Genomics, Breakthrough Genomics 0 0 0 13 42 55
Labcorp Genetics (formerly Invitae), Labcorp 0 0 0 26 9 35
PreventionGenetics, part of Exact Sciences 0 0 0 19 1 20
CeGaT Center for Human Genetics Tuebingen 1 1 5 6 0 13
Genome-Nilou Lab 0 0 0 0 10 10
OMIM 6 0 0 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 3 2 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 3
Baylor Genetics 0 0 2 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 1 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 0 2 0 2
Genetic Services Laboratory, University of Chicago 0 0 0 0 1 1
Mendelics 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 0 0 1
Center for Statistical Genetics, Columbia University 1 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 0 1 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 1

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