ClinVar Miner

Variants in gene KIRREL3

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Gene type:
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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 association not provided total
0 3 85 51 17 1 1 144

Condition and significance breakdown #

Total conditions: 9
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Condition likely pathogenic uncertain significance likely benign benign association not provided total
not specified 0 63 23 5 0 0 91
not provided 2 16 19 14 0 0 48
KIRREL3-related disorder 0 3 15 1 0 0 19
Intellectual disability, autosomal dominant 4 1 4 0 0 0 1 6
Autism spectrum disorder 0 1 0 0 1 0 2
Developmental disorder 0 0 1 0 0 0 1
Global developmental delay; Absent speech; Difficulty walking; Thoracic scoliosis 0 1 0 0 0 0 1
Intellectual disability 0 1 0 0 0 0 1
See cases 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter likely pathogenic uncertain significance likely benign benign association not provided total
Ambry Genetics 0 54 8 0 0 0 62
Genetic Services Laboratory, University of Chicago 0 11 14 5 0 0 30
PreventionGenetics, part of Exact Sciences 0 3 15 1 0 0 19
Labcorp Genetics (formerly Invitae), Labcorp 0 0 9 7 0 0 16
CeGaT Center for Human Genetics Tuebingen 0 3 9 2 0 0 14
Breakthrough Genomics, Breakthrough Genomics 0 0 2 8 0 0 10
GeneDx 1 2 2 3 0 0 8
OMIM 0 3 0 0 0 0 3
Eurofins Ntd Llc (ga) 0 2 0 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 1 1 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 2 0 0 0 0 2
Baylor Genetics 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1 0 0 0 0 1
ISCA site 1 0 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 0 1 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 1 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 1 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 1 0 0 0 1
New York Genome Center 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1

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