ClinVar Miner

Variants in gene SHANK3

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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 not provided total
39 22 47 46 19 2 167

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
History of neurodevelopmental disorder 3 1 16 35 16 0 71
not provided 22 19 15 9 3 0 68
22q13.3 deletion syndrome 8 1 5 0 0 0 14
not specified 0 0 3 1 4 0 8
Inborn genetic diseases 3 0 4 0 0 0 7
Autistic disorder of childhood onset 0 0 5 0 0 0 5
See cases 2 1 0 0 0 0 3
22q13.3 deletion syndrome; Schizophrenia 15 1 0 1 0 0 0 2
Autism spectrum disorder 2 0 0 0 0 0 2
SHANK3-Related Disorder 0 0 0 0 0 2 2
Schizophrenia 15 2 0 0 0 0 0 2
Global developmental delay; Seizures; Behavioral abnormality; Macrocephalus; Hand tremor 0 0 1 0 0 0 1
Intellectual disability 1 0 0 0 0 0 1
Long QT syndrome 0 0 0 1 0 0 1
Psychosis; Mutism; Moderate global developmental delay 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ambry Genetics 5 1 20 35 16 0 77
GeneDx 21 11 8 5 0 0 45
CeGaT Praxis fuer Humangenetik Tuebingen 0 5 5 2 0 0 12
OMIM 5 0 1 0 0 0 6
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 1 1 1 2 0 5
Genetics Laboratory,Facudade de Medicina de Sao Jose do Rio Preto 0 0 5 0 0 0 5
Genetic Services Laboratory, University of Chicago 1 0 2 0 1 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 1 2 0 0 4
ISCA site 1 2 1 0 0 0 0 3
Baylor Miraca Genetics Laboratories, 2 0 0 0 0 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 1 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 2 0 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes 1 1 0 0 0 0 2
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 2 0 2
Liping Wei Laboratory,Peking University 2 0 0 0 0 0 2
Athena Diagnostics Inc 0 0 0 0 1 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 1 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 1
Medical Research Institute,Tokyo Medical and Dental University 0 0 0 1 0 0 1
Diagnostic Laboratory,Strasbourg University Hospital 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 1
Laboratoire de Cytogenetique,Hospices Civils de Lyon 1 0 0 0 0 0 1

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