ClinVar Miner

Variants in gene SPTBN1

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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
22 28 361 67 16 485

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 5 8 142 40 12 204
Inborn genetic diseases 4 0 123 18 0 145
Developmental delay, impaired speech, and behavioral abnormalities 10 15 57 1 0 83
SPTBN1-related disorder 1 1 21 9 5 37
not specified 0 0 17 1 0 18
Neurodevelopmental disorder 1 2 2 0 0 5
Developmental delay, impaired speech, and behavioral abnormalities; Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures 0 0 2 0 0 2
SPTBN1-related neurodevelopmental disease 0 1 1 0 0 2
See cases 0 0 2 0 0 2
Atypical behavior; Mild global developmental delay 0 0 1 0 0 1
Autistic behavior; Intellectual disability 0 0 1 0 0 1
Developmental disorder 0 0 0 1 0 1
Intellectual disability, autosomal recessive 53; Pervasive developmental disorder 1 0 0 0 0 1
Moderate global developmental delay 0 0 1 0 0 1
Neurodevelopmental abnormality 0 0 0 1 0 1
Neurodevelopmental delay 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Ambry Genetics 4 0 123 18 0 145
GeneDx 5 5 100 0 1 111
CeGaT Center for Human Genetics Tuebingen 0 1 18 38 3 60
PreventionGenetics, part of Exact Sciences 0 1 21 9 5 36
Labcorp Genetics (formerly Invitae), Labcorp 0 0 18 2 9 29
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 15 1 0 18
Neuberg Centre For Genomic Medicine, NCGM 0 0 10 0 0 10
Revvity Omics, Revvity 1 0 8 0 0 9
Breakthrough Genomics, Breakthrough Genomics 0 0 0 2 7 9
Baylor Genetics 0 0 8 0 0 8
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 3 5 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 3 3 1 0 8
3billion 1 0 6 0 0 7
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 6 0 0 6
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 6 0 0 6
OMIM 5 0 0 0 0 5
Mendelics 0 2 2 0 0 4
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 2 2 0 0 4
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 2 0 3
Fulgent Genetics, Fulgent Genetics 0 0 2 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 2 0 0 2
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 2 0 0 0 2
Undiagnosed Diseases Network, NIH 1 0 1 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 1 0 0 2
Institute of Human Genetics, University Hospital Muenster 0 0 2 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 2 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 2
MGZ Medical Genetics Center 0 0 1 0 0 1
Bionano Laboratories 0 0 1 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 1
Illumina Laboratory Services, Illumina 0 1 0 0 0 1
Pediatric Department, Peking University First Hospital 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 0 0 1
Bruce Lefroy Centre, Murdoch Childrens Research Institute 0 0 1 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 0 1 0 0 1

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